Hum Genome Var. 2025 Sep 8;12(1):18. doi: 10.1038/s41439-025-00322-2.
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.
PMID:40916030 | DOI:10.1038/s41439-025-00322-2
