SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis.
Yongjia YangYu ZhengWangming LiLiping LiMing TuLiu ZhaoHai-Bo MeiGuanghui ZhuYimin ZhuPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
As an intracellular bone morphogenetic protein (BMP) antagonist gene, SMAD6 is frequently mutated in nsRUS. NOG, which encodes an extracellular BMP antagonist, is rarely mutated in nsRUS. This work is the first genetic study on nsRUS.