Article
Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients.
Orphanet journal of rare diseases - 23 May 2022
Lin Defu, Du Huakang, Zhao Sen, Liu Bowen, Song Hongcheng, Wang Guannan, Zhang Weiping, Liang Haiyan, Liu Pei, Liu Chao, Han Wenwen, Li Zhenwu, Yang Yang, Chen Shuofan, Zhao Lina, Li Xiaoxin, Wu Zhihong, Sun Ning, Wu Nan
Abstract excerpt
BACKGROUND: Hypospadias is a congenital anomaly of the male urogenital system. Genetics factors play an important role in its pathogenesis. To search for potential causal genes/variants for hypospadias, we performed exome sequencing in a pedigree with three patients across two generations and a cohort of 49 sporadic patients with hypospadias. RESULTS: A novel BRAF variant (NM_004333.6: c.362C > A) was found to...
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