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Article

Genetic insights into hypospadias in the Taiwanese population: A whole-exome sequencing study in a single center.

Journal of pediatric surgery - 1 May 2026

Chou Chia-Man, Hsiao Tzu-Hung, Chen Hou-Chuan, Huang Sheng-Yang

Abstract excerpt

OBJECTIVE: Hypospadias is a common congenital urogenital anomaly with a multifactorial etiology. This study aims to identify rare genetic variants associated with hypospadias in a Taiwanese cohort using whole-exome sequencing (WES) and assess their correlation with clinical phenotypes and surgical outcomes. METHODS: A cohort of 55 Taiwanese male patients diagnosed with hypospadias, chordee and buried penis was...

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Cohort Studies
Exome Sequencing
Genetic Association Studies
Hedgehog Proteins
Hypospadias

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41708016
DOI: 10.1016/j.jpedsurg.2026.163020

Genes

SRD5A2
AR
DNAH11
HOXA11
MAF
MEGF8
MGRN1
POR
ZEB2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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