Article
[The gene mutation screening of a family with congenital fibrosis of the extraocular muscles associated with corpus callosum agenesis].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 1 Jul 2013
Zhang Jun-tao, Zhou Lian-hong, Zha Yun-fei, Liu Tian, Tian Ming-xing, Yuan Jing, Xing Yi-qiao
Abstract excerpt
OBJECTIVE: To identify TUBB3 gene mutations in a Chinese family with congenital fibrosis of the extraocular muscle associated with corpus callosum agenesis. METHODS: We have found a family with CFEOM associated with corpus callosum agenesis, including 4 affected individuals in three generations of 11 familial members. 4 affected individuals were sequenced by direct TUBB3 sequencing, 4 unaffected individuals in...
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