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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Dettagli Bibliografici
Pubblicato in:Ann Lab Med
Autori principali: Lee, Seung Jun, Chae, Jong Hee, Lee, Jung Ae, Cho, Sung Im, Seo, Soo Hyun, Park, Hyunwoong, Seong, Moon-Woo, Park, Sung Sup
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Korean Society for Laboratory Medicine 2015
Soggetti:
Case Report
Accesso online: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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