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Identifying infrequent genetic changes in monozygotic twins afflicted with hypospadias via targeted panel sequencing.

Investigative and clinical urology - 1 Sept 2024

Kim Ja Hye, Kim Kun Suk, Han Jae Hyeon, Kim Dongsu, Kwak Chan Hoon, Choi Jin-Ho, Song Sang Hoon

Abstract excerpt

PURPOSE: We aimed to identify the genetic causes of hypospadias in children using targeted gene panel sequencing for disorders of sex development (DSD). MATERIALS AND METHODS: This study included 18 twin boys with hypospadias: seven and two pairs were monozygotic and dizygotic twins, respectively, and six were discordant and three were concordant twins. Targeted gene panel sequencing for 67 known DSD genes was...

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Diseases in Twins
AMH gene
Hypospadias
Infant
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Twins, Monozygotic

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Identifiers

PMID: 39249922
DOI: 10.4111/icu.20230416
PMCID: PMC11390265

Genes

AMH
SRD5A2

Variants

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

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