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Novel and Known DHX37 Variants in 46,XY DSD: Expanding the Genotypic and Phenotypic Spectrum.

Genes - 21 Jul 2026

Xu Xiaocha, Wu Xiaocheng, Chen Shuai, Miao Haixia, Fang Kexin, Wu Dingwen, Zhang Yi, Yang Xin

Abstract excerpt

OBJECTIVE: To investigate the clinical characteristics, inheritance patterns, and genotype-phenotype correlations of DHX37 variants in 46,XY disorders of sex development (DSD). METHODS: We retrospectively reviewed 108 patients with 46,XY karyotype who underwent DSD evaluation and trio-based whole-exome sequencing (trio-WES) at our center between January 2021 and December 2025. Six probands with DHX37 variants and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42510869
DOI: 10.3390/genes17070829
PMCID: PMC13410202

Genes

DHX37

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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