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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Bibliographic Details
Published in: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
Format: Artigo
Language:Inglês
Published: Frontiers Media S.A. 2017
Subjects:
Genetics
Online Access: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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