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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Dades bibliogràfiques
Publicat a:Ann Lab Med
Autors principals: Lee, Seung Jun, Chae, Jong Hee, Lee, Jung Ae, Cho, Sung Im, Seo, Soo Hyun, Park, Hyunwoong, Seong, Moon-Woo, Park, Sung Sup
Format: Artigo
Idioma:Inglês
Publicat: The Korean Society for Laboratory Medicine 2015
Matèries:
Case Report
Accés en línia: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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