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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

C. Mignot, AC. McMahon, C. Bar, PM. Campeau, C. Davidson, J. Buratti, C. Nava, ML. Jacquemont, M. Tallot, M. Milh, P. Edery, P. Marzin, G. Barcia, C. Barnerias, C. Besmond, T. Bienvenu, AL. Bruel, L. Brunga, B. Ceulemans, C. Coubes, AG....

. 2019 ; 21 (4) : 837-849. [pub] 20180912

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc19028219

Grantová podpora
WT200990/Z/16/Z Wellcome Trust - United Kingdom
NV15-33041A MZ0 CEP - Centrální evidence projektů
NV17-29423A MZ0 CEP - Centrální evidence projektů

PURPOSE: Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences. METHODS: We collected the data of 37 unpublished patients (18 males and 19 females) with IQSEC2 pathogenic variants and 5 individuals with variants of unknown significance and reviewed published variants. We compared variant types and phenotypes in males and females and performed an analysis of IQSEC2 isoforms. RESULTS: IQSEC2 pathogenic variants mainly led to premature truncation and were scattered throughout the longest brain-specific isoform, encoding the synaptic IQSEC2/BRAG1 protein. Variants occurred de novo in females but were either de novo (2/3) or inherited (1/3) in males, with missense variants being predominantly inherited. Developmental delay and intellectual disability were overall more severe in males than in females. Likewise, seizures were more frequently observed and intractable, and started earlier in males than in females. No correlation was observed between the age at seizure onset and severity of intellectual disability or resistance to antiepileptic treatments. CONCLUSION: This study provides a comprehensive overview of IQSEC2-related encephalopathy in males and females, and suggests that an accurate dosage of IQSEC2 at the synapse is crucial during normal brain development.

Aix Marseille University INSERM MMG UMR S 1251 Faculte de medecine Marseille France Departement de Genetique Medicale APHM Hopital d'Enfants de La Timone Marseille France

APHM Hôpital d'Enfants de La Timone Service de Neurologie Pediatrique centre de reference deficiences intellectuelles de cause rare Marseille France Aix Marseille University INSERM MMG UMR S 1251 Faculte de medecine Marseille France

APHP Department of Clinical Neurophysiology Necker Enfants Malades Hospital Paris France

APHP Hôpital Pitie Salpetriere Departement de Genetique et de Cytogenetique

APHP Hôpital Trousseau service de neuropediatrie Paris France Sorbonne Universite GRC n°19 pathologies Congenitales du Cervelet LeucoDystrophies APHP Hôpital Armand Trousseau Paris France

APHP Laboratoire de Genetique et Biologie Moleculaires Hôpital Cochin HUPC Paris France Universite Paris Descartes Paris Institut de Psychiatrie et de Neurosciences de Paris Inserm U894 Paris France

APHP Reference Centre for Rare Epilepsies Necker Enfants Malades Hospital Imagine Institute Paris Descartes University Paris France INSERM U1163 Imagine Institute Paris France Paris Descartes University Paris France

APHP Service de genetique medicale Necker Enfants Malades Hospital Imagine Institute Paris Descartes University Paris France

APHP Service de neurologie pediatrique Hôpital Universitaire Bicetre Le Kremlin Bicetre France

APHP Unite fonctionnelle de Neurologie Necker Enfants Malades Hospital Imagine Institute Paris Descartes University Paris France

APHP University Hospital of Paris ïle de France ouest Raymond Poincare Hospital Garches France

Centre de Genetique Chromosomique Hôpital St Vincent de Paul GHICL Lille France

Centre de Genetique Humaine Institut de Pathologie et de Genetique Gosselies Belgium

Centre de Reference Deficience Intellectuelle de Causes Rares

Centre for Medical Genetics Ghent Ghent University Hospital C Heymanslaan 10 Ghent Belgium

Child Neurology Department 2nd Faculty of Medicine Charles University and Motol Hospital Prague Czech Republic

CHU La Reunion Groupe Hospitalier Sud Reunion La Reunion France

CHU Rennes Service de Genetique Moleculaire et Genomique Rennes France

CHU Rennes Service de Genetique Moleculaire et Genomique Rennes France Danish Epilepsy Centre Filadelfia Dianalund Denmark

Clinical Genomics and Predictive Medicine Providence Medical Group Dayton WA USA

Danish Epilepsy Centre Filadelfia Dianalund Denmark

Danish Epilepsy Centre Filadelfia Dianalund Denmark Institute for Regional Health Services University of Southern Denmark Odense Denmark

Departement de Genetique Medicale APHM Hopital d'Enfants de La Timone Marseille France

Departement de Genetique Medicale Maladies rares et Medecine Personnalisee CHU de Montpellier Montpellier France

Departement de Genetique Medicale Maladies rares et Medecine Personnalisee CHU de Montpellier Montpellier France INSERM U1183 Montpellier France

Department of Biology and Medical Genetics Charles University 2nd Faculty of Medicine and University Hospital Motol Prague Czech Republic

Department of Clinical Diagnostics Ambry Genetics Aliso Viejo CA USA

Department of Genetics Hôpital Universitaire des Enfants Reine Fabiola ULB Center of Human Genetics Universite Libre de Bruxelles Brussels Belgium Department of Genetics Hôpital Erasme ULB Center of Human Genetics Universite Libre de Bruxelles Brussels Belgium Interuniversity Institute of Bioinformatics in Brussels Universite Libre de Bruxelles Brussels Belgium

Department of Genetics University Medical Center Utrecht Utrecht The Netherlands

Department of Metabolic Diseases Wilhelmina Children's Hospital University Medical Center Utrecht The Netherlands

Department of Pediatric Neurology University Hospital and University of Antwerp Antwerp Belgium

Department of Pediatrics Albany Medical Center Albany NY USA

Departments of Pediatrics and Neurosciences CHU Sainte Justine and University of Montreal Montreal Canada

Division of Medical Genetics Department of Pediatrics CHU Sainte Justine and University of Montreal Montreal QC Canada

Division of Neurology Children's Hospital of Philadelphia Philadelphia PA USA

Division of Neurology Department of Paediatrics The Hospital for Sick Children University of Toronto Toronto ON Canada

Division of Neuropediatrics CHU Raymond Poincare Garches France

European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus Hinxton Cambridge UK

FHU TRANSLAD Universite de Bourgogne CHU Dijon Dijon France INSERM UMR 1231 GAD team Genetics of Developmental disorders Universite de Bourgogne Franche Comte Dijon France

FHU TRANSLAD Universite de Bourgogne CHU Dijon Dijon France Unite fonctionnelle de genetique clinique Centre Hospitalier Intercommunal de Creteil Creteil France

GRC UPMC «Deficience Intellectuelle et Autisme» Paris France

INSERM U 1127 CNRS UMR 7225 Sorbonne Universites UPMC Univ Paris 06 UMR S 1127 Institut du Cerveau et de la Moelle epiniere ICM Paris France APHP Hôpital Pitie Salpetriere Departement de Genetique et de Cytogenetique

INSERM U 1127 CNRS UMR 7225 Sorbonne Universites UPMC Univ Paris 06 UMR S 1127 Institut du Cerveau et de la Moelle epiniere ICM Paris France IGBMC CNRS UMR 7104 INSERM U964 Universite de Strasbourg Illkirch France Institute of Human Genetics University Hospital Essen University of Duisburg Essen Essen Germany

INSERM U1163 Imagine Institute Paris France Paris Descartes University Paris France

INSERM U1163 Imagine Institute Paris France Paris Descartes University Paris France APHP Service de genetique medicale Necker Enfants Malades Hospital Imagine Institute Paris Descartes University Paris France

Institut de Genetique Medicale CHRU Lille Universite de Lille Lille France

Neurogenetics Group Center of Molecular Neurology VIB Antwerp Belgium Neurology Department University Hospital Antwerp Antwerp Belgium

Service de Genetique Centre de Reference Anomalies du Developpement Hospices Civils de Lyon Bron France INSERM U1028 CNRS UMR5292 Centre de Recherche en Neurosciences de Lyon GENDEV Team Universite Claude Bernard Lyon 1 Bron France Claude Bernard Lyon 1 University Lyon France

Service de Genetique Medicale CLAD Ouest CHU Hôpital Sud Rennes France

Service de Genetique Medicale Hôpital Chubert Vannes France

Stichting Epilepsie Instellingen Nederland SEIN Zwolle The Netherlands

Unite de Genetique Medicale Centre de Reference des Maladies rares du Developpement CHI Poissy St Germain en Laye Poissy France

Citace poskytuje Crossref.org

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$a PURPOSE: Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences. METHODS: We collected the data of 37 unpublished patients (18 males and 19 females) with IQSEC2 pathogenic variants and 5 individuals with variants of unknown significance and reviewed published variants. We compared variant types and phenotypes in males and females and performed an analysis of IQSEC2 isoforms. RESULTS: IQSEC2 pathogenic variants mainly led to premature truncation and were scattered throughout the longest brain-specific isoform, encoding the synaptic IQSEC2/BRAG1 protein. Variants occurred de novo in females but were either de novo (2/3) or inherited (1/3) in males, with missense variants being predominantly inherited. Developmental delay and intellectual disability were overall more severe in males than in females. Likewise, seizures were more frequently observed and intractable, and started earlier in males than in females. No correlation was observed between the age at seizure onset and severity of intellectual disability or resistance to antiepileptic treatments. CONCLUSION: This study provides a comprehensive overview of IQSEC2-related encephalopathy in males and females, and suggests that an accurate dosage of IQSEC2 at the synapse is crucial during normal brain development.
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700    1_
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700    1_
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700    1_
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700    1_
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700    1_
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700    1_
$a Barcia, Giulia $u INSERM U1163, Imagine Institute, Paris, France. Paris Descartes University, Paris, France. APHP, Service de genetique medicale, Necker-Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France.
700    1_
$a Barnerias, Christine $u APHP, Unite fonctionnelle de Neurologie, Necker-Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France.
700    1_
$a Besmond, Claude $u INSERM U1163, Imagine Institute, Paris, France. Paris Descartes University, Paris, France.
700    1_
$a Bienvenu, Thierry $u APHP, Laboratoire de Genetique et Biologie Moleculaires, Hôpital Cochin, HUPC, Paris, France. Universite Paris Descartes Paris, Institut de Psychiatrie et de Neurosciences de Paris, Inserm U894, Paris, France.
700    1_
$a Bruel, Ange-Line $u FHU-TRANSLAD, Universite de Bourgogne/CHU Dijon, Dijon, France. INSERM UMR 1231 GAD team, Genetics of Developmental disorders, Universite de Bourgogne-Franche Comte, Dijon, France.
700    1_
$a Brunga, Ledia $u Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
700    1_
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700    1_
$a Coubes, Christine $u Departement de Genetique Medicale, Maladies rares et Medecine Personnalisee, CHU de Montpellier, Montpellier, France.
700    1_
$a Cristancho, Ana G $u Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
700    1_
$a Cunningham, Fiona $u European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
700    1_
$a Dehouck, Marie-Bertille $u Centre de Genetique Chromosomique, Hôpital St-Vincent-de-Paul, GHICL, Lille, France.
700    1_
$a Donner, Elizabeth J $u Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
700    1_
$a Duban-Bedu, Bénédicte $u Centre de Genetique Chromosomique, Hôpital St-Vincent-de-Paul, GHICL, Lille, France.
700    1_
$a Dubourg, Christèle $u CHU Rennes, Service de Genetique Moleculaire et Genomique, Rennes, France.
700    1_
$a Gardella, Elena $u Danish Epilepsy Centre Filadelfia, Dianalund, Denmark. Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
700    1_
$a Gauthier, Julie $u Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.
700    1_
$a Geneviève, David $u Departement de Genetique Medicale, Maladies rares et Medecine Personnalisee, CHU de Montpellier, Montpellier, France. INSERM U1183, Montpellier, France.
700    1_
$a Gobin-Limballe, Stéphanie $u APHP, Service de genetique medicale, Necker-Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France.
700    1_
$a Goldberg, Ethan M $u Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
700    1_
$a Hagebeuk, Eveline $u Stichting Epilepsie Instellingen Nederland, SEIN, Zwolle, The Netherlands.
700    1_
$a Hamdan, Fadi F $u Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.
700    1_
$a Hančárová, Miroslava $u Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
700    1_
$a Hubert, Laurence $u INSERM U1163, Imagine Institute, Paris, France. Paris Descartes University, Paris, France.
700    1_
$a Ioos, Christine $u APHP, University Hospital of Paris ïle-de-France ouest, Raymond Poincare Hospital, Garches, France.
700    1_
$a Ichikawa, Shoji $u Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA, USA.
700    1_
$a Janssens, Sandra $u Centre for Medical Genetics Ghent, Ghent University Hospital, C. Heymanslaan 10, Ghent, Belgium.
700    1_
$a Journel, Hubert $u Service de Genetique Medicale, Hôpital Chubert, Vannes, France.
700    1_
$a Kaminska, Anna $u APHP, Department of Clinical Neurophysiology, Necker-Enfants Malades Hospital, Paris, France.
700    1_
$a Keren, Boris $u APHP, Hôpital Pitie-Salpetriere, Departement de Genetique et de Cytogenetique; Centre de Reference Deficience Intellectuelle de Causes Rares; GRC UPMC «Deficience Intellectuelle et Autisme», Paris, France.
700    1_
$a Koopmans, Marije $u Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
700    1_
$a Lacoste, Caroline $u Departement de Genetique Medicale, APHM, Hopital d'Enfants de La Timone, Marseille, France.
700    1_
$a Laššuthová, Petra $u Child Neurology Department, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic.
700    1_
$a Lederer, Damien $u Centre de Genetique Humaine, Institut de Pathologie et de Genetique, Gosselies, Belgium.
700    1_
$a Lehalle, Daphné $u FHU-TRANSLAD, Universite de Bourgogne/CHU Dijon, Dijon, France. Unite fonctionnelle de genetique clinique, Centre Hospitalier Intercommunal de Creteil, Creteil, France.
700    1_
$a Marjanovic, Dragan $u Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.
700    1_
$a Métreau, Julia $u APHP, Service de neurologie pediatrique, Hôpital Universitaire Bicetre, Le Kremlin-Bicetre, France.
700    1_
$a Michaud, Jacques L $u Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.
700    1_
$a Miller, Kathryn $u Department of Pediatrics, Albany Medical Center, Albany, NY, USA.
700    1_
$a Minassian, Berge A $u Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
700    1_
$a Morales, Joannella $u European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
700    1_
$a Moutard, Marie-Laure $u APHP, Hôpital Trousseau, service de neuropediatrie, Paris, France. Sorbonne Universite, GRC n°19, pathologies Congenitales du Cervelet-LeucoDystrophies, APHP, Hôpital Armand Trousseau, Paris, France.
700    1_
$a Munnich, Arnold $u INSERM U1163, Imagine Institute, Paris, France. Paris Descartes University, Paris, France. APHP, Service de genetique medicale, Necker-Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France.
700    1_
$a Ortiz-Gonzalez, Xilma R $u Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
700    1_
$a Pinard, Jean-Marc $u Division of Neuropediatrics, CHU Raymond Poincare (APHP), Garches, France.
700    1_
$a Prchalová, Darina $u Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
700    1_
$a Putoux, Audrey $u Service de Genetique, Centre de Reference Anomalies du Developpement, Hospices Civils de Lyon, Bron, France. INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Universite Claude Bernard Lyon 1, Bron, France. Claude Bernard Lyon I University, Lyon, France.
700    1_
$a Quelin, Chloé $u Service de Genetique Medicale, CLAD Ouest CHU Hôpital Sud, Rennes, France.
700    1_
$a Rosen, Alyssa R $u Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
700    1_
$a Roume, Joelle $u Unite de Genetique Medicale, Centre de Reference des Maladies rares du Developpement (AnD DI Rares), CHI Poissy-St Germain en Laye, Poissy, France.
700    1_
$a Rossignol, Elsa $u Departments of Pediatrics and Neurosciences, CHU Sainte-Justine and University of Montreal, Montreal, Canada.
700    1_
$a Simon, Marleen E H $u Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
700    1_
$a Smol, Thomas $u Institut de Genetique Medicale, CHRU Lille, Universite de Lille, Lille, France.
700    1_
$a Shur, Natasha $u Department of Pediatrics, Albany Medical Center, Albany, NY, USA.
700    1_
$a Shelihan, Ivan $u Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.
700    1_
$a Štěrbová, Katalin $u Child Neurology Department, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic.
700    1_
$a Vyhnálková, Emílie $u Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
700    1_
$a Vilain, Catheline $u Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Human Genetics, Universite Libre de Bruxelles, Brussels, Belgium. Department of Genetics, Hôpital Erasme, ULB Center of Human Genetics, Universite Libre de Bruxelles, Brussels, Belgium. Interuniversity Institute of Bioinformatics in Brussels, Universite Libre de Bruxelles, Brussels, Belgium.
700    1_
$a Soblet, Julie $u Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Human Genetics, Universite Libre de Bruxelles, Brussels, Belgium. Department of Genetics, Hôpital Erasme, ULB Center of Human Genetics, Universite Libre de Bruxelles, Brussels, Belgium. Interuniversity Institute of Bioinformatics in Brussels, Universite Libre de Bruxelles, Brussels, Belgium.
700    1_
$a Smits, Guillaume $u Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Human Genetics, Universite Libre de Bruxelles, Brussels, Belgium. Department of Genetics, Hôpital Erasme, ULB Center of Human Genetics, Universite Libre de Bruxelles, Brussels, Belgium. Interuniversity Institute of Bioinformatics in Brussels, Universite Libre de Bruxelles, Brussels, Belgium.
700    1_
$a Yang, Samuel P $u Clinical Genomics & Predictive Medicine, Providence Medical Group, Dayton, WA, USA.
700    1_
$a van der Smagt, Jasper J $u Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
700    1_
$a van Hasselt, Peter M $u Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center, Utrecht, The Netherlands.
700    1_
$a van Kempen, Marjan $u Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
700    1_
$a Weckhuysen, Sarah $u Neurogenetics Group, Center of Molecular Neurology, VIB, Antwerp, Belgium. Neurology Department, University Hospital Antwerp, Antwerp, Belgium.
700    1_
$a Helbig, Ingo $u Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
700    1_
$a Villard, Laurent $u Aix Marseille University, INSERM, MMG, UMR-S 1251, Faculte de medecine, Marseille, France. Departement de Genetique Medicale, APHM, Hopital d'Enfants de La Timone, Marseille, France.
700    1_
$a Héron, Delphine $u APHP, Hôpital Pitie-Salpetriere, Departement de Genetique et de Cytogenetique; Centre de Reference Deficience Intellectuelle de Causes Rares; GRC UPMC «Deficience Intellectuelle et Autisme», Paris, France.
700    1_
$a Koeleman, Bobby $u Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
700    1_
$a Møller, Rikke S $u CHU Rennes, Service de Genetique Moleculaire et Genomique, Rennes, France. Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.
700    1_
$a Lesca, Gaetan $u Service de Genetique, Centre de Reference Anomalies du Developpement, Hospices Civils de Lyon, Bron, France. INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Universite Claude Bernard Lyon 1, Bron, France. Claude Bernard Lyon I University, Lyon, France.
700    1_
$a Helbig, Katherine L $u Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
700    1_
$a Nabbout, Rima $u APHP, Reference Centre for Rare Epilepsies, Necker-Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France. INSERM U1163, Imagine Institute, Paris, France. Paris Descartes University, Paris, France.
700    1_
$a Verbeek, Nienke E $u Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
700    1_
$a Depienne, Christel $u INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France. christel.depienne@uni-due.de. IGBMC, CNRS UMR 7104/INSERM U964/Universite de Strasbourg, Illkirch, France. christel.depienne@uni-due.de. Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany. christel.depienne@uni-due.de.
773    0_
$w MED00186213 $t Genetics in medicine : official journal of the American College of Medical Genetics $x 1530-0366 $g Roč. 21, č. 4 (2019), s. 837-849
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