DHX37 variants in patients with 46,XY disorders or differences of sex development.

ABSTRACT: Here, using whole-exome sequencing of a cohort of 17 Japanese patients with 46,XY disorders or differences of sex development, we identified two pathogenic DEAH-box helicase 37 (DHX37) variants in three patients. We also identified a patient with a likely pathogenic variant in SOX9 and a rare likely benign variant in DHX37. This Data Report highlights the genetic and phenotypic diversity of DXH37 variants.

SUBMITTER: Katoh-Fukui Y 

PROVIDER: S-EPMC12415111 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature