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Whole-exome sequencing study of hypospadias

12 Apr 2023

Abstract excerpt

Hypospadias results from the impaired urethral development, which is influenced by androgens, but its genetic etiology is still unknown. Through whole exome sequencing analysis, we identified NR5A1 , SRD5A2, and AR as mutational hotspots in the etiology of severe hypospadias, as these genes are related to androgen signaling. Additionally, rare damaging variants in cilia-related outer dynein arm heavy chain (...

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PMID: 37168556
DOI: 10.1016/j.isci.2023.106663

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