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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Autors principals:	Sonoko Sakata, Satoshi Okada, Kohei Aoyama, Keiichi Hara, Chihiro Tani, Reiko Kagawa, Akari Utsunomiya-Nakamura, Shinichiro Miyagawa, Tsutomu Ogata, Haruo Mizuno, Masao Kobayashi
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2017-12-01
Col·lecció:	Frontiers in Genetics
Matèries:	CHARGE syndrome Kabuki syndrome KMT2D CHD7 phenotypic overlap
Accés en línia:	http://journal.frontiersin.org/article/10.3389/fgene.2017.00210/full
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