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Article

Genetic Polymorphism in the RYR1 C6487T Is Associated with Severity of Hypospadias in Chinese Han Children.

BioMed research international - 1 Jan 2018

Zhang Haiyan, Zhang Zhuo, Jia Linpei, Ji Wei, Li Hai

Abstract excerpt

OBJECTIVE: Hypospadias is a common congenital malformation of the male external genitalia. Most cases have an unknown etiology, which is probably a mix of monogenic and multifactorial forms, implicating both genetic and environmental factors. Ryanodine receptor 1 (RYR1) mutations are a common cause of congenital diseases associated with both dominant and recessive inheritance in humans. Herein, we evaluated the...

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Identifiers

PMID: 30027098
DOI: 10.1155/2018/7397839
PMCID: PMC6031201

Genes

RYR1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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