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...

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Podrobná bibliografie
Vydáno v:BMC Med Genet
Hlavní autoři: Pisaneschi, Elisa, Sirleto, Pietro, Lepri, Francesca Romana, Genovese, Silvia, Dentici, Maria Lisa, Petrocchi, Stefano, Angioni, Adriano, Digilio, Maria Cristina, Dallapiccola, Bruno
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2015
Témata:
Case Report
On-line přístup: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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