Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report

We report a Japanese female patient presenting with classic features of CHARGE syndrome, including choanal atresia, growth and development retardation, ear malformations, genital anomalies, multiple endocrine deficiency, and unilateral facial nerve palsy. She was clinically diagnosed with typical CH...

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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Sakata, Sonoko, Okada, Satoshi, Aoyama, Kohei, Hara, Keiichi, Tani, Chihiro, Kagawa, Reiko, Utsunomiya-Nakamura, Akari, Miyagawa, Shinichiro, Ogata, Tsutomu, Mizuno, Haruo, Kobayashi, Masao
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2017
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5732153/
https://ncbi.nlm.nih.gov/pubmed/29321794
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2017.00210
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