Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles

PURPOSE: To identify the causative mutation with its possible origin in a Chinese family with congenital fibrosis of extraocular muscles type 1 (CFEOM1) and to characterize the ocular phenotypes and lesions in the corresponding intracranial nerves. METHODS: Three affected siblings and their asymptom...

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Detalles Bibliográficos
Autores principales: Liu, Gang, Chen, Xue, Sun, Xiantao, Liu, Hu, Zhao, Kanxing, Chang, Qinglin, Pan, Xinyuan, Wang, Xiuying, Yuan, Songtao, Liu, Qinghuai, Zhao, Chen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3888497/
https://www.ncbi.nlm.nih.gov/pubmed/24426772

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