Linking SOX10 to a slow-growth resistance phenotype
نویسندگان
چکیده
منابع مشابه
Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.
SOX10 is a transcription factor with well-known functions in neural crest and oligodendrocyte development. Mutations in SOX10 were first associated with Waardenburg-Hirschsprung disease (WS4; deafness, pigmentation defects and intestinal aganglionosis). However, variable phenotypes that extend beyond the WS4 definition are now reported. The neurological phenotypes associated with some truncatin...
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ژورنال
عنوان ژورنال: Cell Research
سال: 2014
ISSN: 1001-0602,1748-7838
DOI: 10.1038/cr.2014.67