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

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
Main Authors: Sonoko Sakata, Satoshi Okada, Kohei Aoyama, Keiichi Hara, Chihiro Tani, Reiko Kagawa, Akari Utsunomiya-Nakamura, Shinichiro Miyagawa, Tsutomu Ogata, Haruo Mizuno, Masao Kobayashi
Format: Article
Language:English
Published: Frontiers Media S.A. 2017-12-01
Series:Frontiers in Genetics
Subjects:
CHARGE syndrome
Kabuki syndrome
KMT2D
CHD7
phenotypic overlap
Online Access:http://journal.frontiersin.org/article/10.3389/fgene.2017.00210/full

Internet

http://journal.frontiersin.org/article/10.3389/fgene.2017.00210/full

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