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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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書目詳細資料
發表在: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
格式: Artigo
語言:Inglês
出版: Frontiers Media S.A. 2017
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在線閱讀: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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