Article
[Kallmann syndrome with deafness caused by SOX10 mutation: Advances in research].
Zhonghua nan ke xue = National journal of andrology - 1 Sept 2017
Zhou Xi, Li Wei-Wei, Wu Qiu-Yue, Yu Mao-Mao, Xia Xin-Yi
Abstract excerpt
The transcription factor SOX10, as a major actor in the development of the neural crest, plays a key role in the maintenance of progenitor cell multipotency, lineage specification, and cell differentiation. Abnormalities of neural crest development in humans lead to a number of genetic diseases known as neurocristopathies or neural crest disorders. The mutation of SOX10 can cause Kallmann syndrome (KS), which is...
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