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Inherited KIF21A and PAX6 gene mutations in a boy with congenital Fibrosis of extraocular muscles and aniridia

BACKGROUND: Mutations in the KIF21A gene are detected in the patients with congenital fibrosis of the extraocular muscles. Mutations in the PAX6 gene are detected in the patients with congenital aniridia. CASE PRESENTATION: Herein we report a boy with both congenital fibrosis of extraocular muscles...

詳細記述

保存先:
書誌詳細
主要な著者: Ying, Ming, Han, Ruifang, Hao, Peng, Wang, Liming, Li, Ningdong
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2013
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3704937/
https://ncbi.nlm.nih.gov/pubmed/23799907
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-63
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