Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients

Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients

Abstract 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 an...

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Bibliographic Details
Main Authors: Defu Lin, Huakang Du, Sen Zhao, Bowen Liu, Hongcheng Song, Guannan Wang, Weiping Zhang, Haiyan Liang, Pei Liu, Chao Liu, Wenwen Han, Zhenwu Li, Yang Yang, Shuofan Chen, Lina Zhao, Xiaoxin Li, Zhihong Wu, DISCO (Deciphering Disorders Involving Scoliosis & COmorbidities) study group, Ning Sun, Nan Wu
Format: Article
Language:English
Published: BMC 2022-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Hypospadias
Pedigree
Proto-oncogene proteins B-raf (BRAF)
Mitogen-activated protein kinases (MAPK)
p38 mitogen-activated protein kinases
Sex-determining region Y protein (SRY)
Online Access:https://doi.org/10.1186/s13023-022-02334-5

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