Late-presenting congenital diaphragmatic hernia in a child with TMEM70 deficiency
Language English Country Australia Media print
Document type Case Reports, Letter
PubMed
27649480
DOI
10.1111/cga.12194
Knihovny.cz E-resources
- MeSH
- Acidosis, Lactic diagnosis genetics pathology MeSH
- Gene Expression MeSH
- Facies MeSH
- Fatal Outcome MeSH
- Cardiomyopathy, Hypertrophic diagnosis genetics pathology MeSH
- Hypospadias diagnosis genetics pathology MeSH
- Humans MeSH
- Membrane Proteins deficiency genetics MeSH
- Microcephaly diagnosis genetics pathology MeSH
- Mitochondrial Proteins deficiency genetics MeSH
- Mutation MeSH
- Child, Preschool MeSH
- Muscle Hypotonia diagnosis genetics pathology MeSH
- Hernias, Diaphragmatic, Congenital diagnostic imaging genetics pathology surgery MeSH
- Developmental Disabilities diagnosis genetics pathology MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Child, Preschool MeSH
- Publication type
- Letter MeSH
- Case Reports MeSH
- Names of Substances
- Membrane Proteins MeSH
- Mitochondrial Proteins MeSH
- TMEM70 protein, human MeSH Browser
Department of Abdominal Surgery Mother and Child Health Care Institute of Serbia Belgrade Serbia
Department of Pulmonology Mother and Child Health Care Institute of Serbia Belgrade Serbia
References provided by Crossref.org
Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase
