Unique phenotype in a patient with CHARGE syndrome

CHARGE is a phenotypically heterogeneous autosomal dominant disorder recognized as a cohesive syndrome since the identification of CHD7 as a genetic etiology. Classic features include: Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genitourinary abnormalities, and Ear ano...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Jain, Shobhit, Kim, Hyung-Goo, Lacbawan, Felicitas, Meliciani, Irene, Wenzel, Wolfgang, Kurth, Ingo, Sharma, Josefina, Schoeneman, Morris, Ten, Svetlana, Layman, Lawrence C, Jacobson-Dickman, Elka
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2011
Gaiak:
Case Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3216247/
https://ncbi.nlm.nih.gov/pubmed/21995344
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1687-9856-2011-11
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