Non-Homologous End Joining Repair Mechanism-Mediated Deletion of CHD7 Gene in a Patient with Typical CHARGE Syndrome

CHARGE syndrome MIM #214800 is an autosomal dominant syndrome involving multiple congenital malformations. Clinical symptoms include coloboma, heart defects, choanal atresia, retardation of growth or development, genital hypoplasia, and ear anomalies or deafness. Mutations in the chromodomain helica...

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Detalhes bibliográficos
Publicado no:Ann Lab Med
Main Authors: Lee, Seung Jun, Chae, Jong Hee, Lee, Jung Ae, Cho, Sung Im, Seo, Soo Hyun, Park, Hyunwoong, Seong, Moon-Woo, Park, Sung Sup
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Society for Laboratory Medicine 2015
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4272946/
https://ncbi.nlm.nih.gov/pubmed/25553296
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2015.35.1.141
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