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CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon
BACKGROUND: CHARGE syndrome is an autosomal dominant disorder, characterized by ocular Coloboma, congenital Heart defects, choanal Atresia, Retardation, Genital anomalies and Ear anomalies. Over 90 % of typical CHARGE patients are mutated in the CHD7 gene, 65 %–70 % of the cases for all typical and...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2015
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4559162/ https://www.ncbi.nlm.nih.gov/pubmed/26334530 http://dx.doi.org/10.1186/s12881-015-0225-7 |