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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...
שמור ב:
| הוצא לאור ב: | BMC Med Genet |
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| Main Authors: | , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
BioMed Central
2015
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4559162/ https://ncbi.nlm.nih.gov/pubmed/26334530 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0225-7 |
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