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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Detalles Bibliográficos
Autores principales: Sakata, Sonoko, Okada, Satoshi, Aoyama, Kohei, Hara, Keiichi, Tani, Chihiro, Kagawa, Reiko, Utsunomiya-Nakamura, Akari, Miyagawa, Shinichiro, Ogata, Tsutomu, Mizuno, Haruo, Kobayashi, Masao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732153/
https://www.ncbi.nlm.nih.gov/pubmed/29321794
http://dx.doi.org/10.3389/fgene.2017.00210

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732153/
https://www.ncbi.nlm.nih.gov/pubmed/29321794
http://dx.doi.org/10.3389/fgene.2017.00210

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