Article
De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.
BMC genomics - 16 Sept 2015
Yu Yongguo, Yao RuEn, Wang Lili, Fan Yanjie, Huang Xiaodong, Hirschhorn Joel, Dauber Andrew, Shen Yiping
Abstract excerpt
BACKGROUND: Human height is a complex trait with a strong genetic basis. Recently, a significant association between rare copy number variations (CNVs) and short stature has been identified, and candidate genes in these rare CNVs are being explored. This study aims to evaluate the association between mutations in ARID1B gene and short stature, both the syndromic and non-syndromic form. RESULTS: Based on a...
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