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CHARGE syndrome: A case report of two new CDH7 gene mutations

CHARGE syndrome is a genetic disorder comprising the following clinical features: coloboma, heart defects, choanal atresia, retardation (of growth and development), as well as genitourinary and ear abnormalities. This syndrome is caused by mutations in the CDH7 gene, located on chromosome 8 (8q12)....

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Detalles Bibliográficos
Autores principales:	Galvez-Ruiz, Alberto, Galindo-Ferreiro, Alicia, Lehner, Anthony J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8409354/ https://www.ncbi.nlm.nih.gov/pubmed/34527879 http://dx.doi.org/10.4103/1319-4534.322601

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