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Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family

Sha, YW; Ma, D; Zhang, N; Wei, XL; Liu, WS; Wang, X

Wang, X (reprint author), Qingdao Univ, Affiliated Yantai Yuhuangding Hosp, Reprod Med Ctr, Yantai 264000, Shandong, Peoples R China.; Liu, WS (reprint author), Xiamen Univ, Sch Pharmaceut Sci, Xiamen 361005, Fujian, Peoples R China.

BMC MEDICAL GENETICS, 2019; 20 ():

Abstract

Background: Proximal symphalangism (SYM1; OMIM 185800), also called Cushing's symphalangism, is an infrequent autosomal dominant disease. An SYM1 pati......

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