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Dystrophia canthorum in Waardenburg syndrome with a novel MITF mutation

AIM: To reveal a novel MITF gene mutation in Waardenburg syndrome (WS), which is an autosomal dominant inherited neurogenic disorder that consists of various degrees of sensorineural deafness and pigmentary abnormalities in the eyes, hair and skin. METHODS: The genetic analysis of the Chinese family...

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Detalhes bibliográficos
Publicado no:Int J Ophthalmol
Main Authors: Tang, Xia-Jing, Ping, Xi-Yuan, Luo, Chen-Qi, Yu, Xiao-Ning, Tang, Ye-Lei, Shentu, Xing-Chao
Formato: Artigo
Idioma:Inglês
Publicado em: International Journal of Ophthalmology Press 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7321951/
https://ncbi.nlm.nih.gov/pubmed/32685391
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2020.07.06
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