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Czech family confirms the new 1p36.13-1p36.12 microdeletion syndrome
P. Seeman, V. Čejnová, Š. Černá, L. Rennerová, M. Trková, J. Kofer, J. Laštůvková
Language English Country Denmark
Document type Letter, Research Support, Non-U.S. Gov't
PubMed
35726688
DOI
10.1111/cge.14175
Knihovny.cz E-resources
- MeSH
- Chromosome Deletion * MeSH
- Chromosome Disorders * genetics MeSH
- Phenotype MeSH
- Humans MeSH
- Chromosomes, Human, Pair 1 genetics MeSH
- Syndrome MeSH
- Check Tag
- Humans MeSH
- Publication type
- Letter MeSH
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Czech Republic MeSH
Confirmation of the newly described 1p36.13-1p36.12 microdeletion syndrome by finding of a 2,2 Mb deletion in the critical region in a Czech two generation family with a very similar phenotype, but in addition also polyneuropathy of lower limbs.
Child Neurology Usti nad Labem Czech Republic
Department of Medical Genetics Masaryk Hospital Ústí nad Labem Usti nad Labem Czech Republic
References provided by Crossref.org
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