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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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Detalles Bibliográficos
Autores principales:	Lee, Seung Jun, Chae, Jong Hee, Lee, Jung Ae, Cho, Sung Im, Seo, Soo Hyun, Park, Hyunwoong, Seong, Moon-Woo, Park, Sung Sup
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Society for Laboratory Medicine 2015
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4272946/ https://www.ncbi.nlm.nih.gov/pubmed/25553296 http://dx.doi.org/10.3343/alm.2015.35.1.141

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