Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients

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 coho...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9128137/
https://www.ncbi.nlm.nih.gov/pubmed/35606856
http://dx.doi.org/10.1186/s13023-022-02334-5

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