A homozygous TRIP13 pathogenic variant associated with familiar oocyte arrest and prematurely condensed sperm chromosomes
Sign Up to like & getrecommendations! Published in 2025 at "Molecular Cytogenetics"
DOI: 10.1186/s13039-025-00722-7
Abstract: We report on a consanguineous family with two infertile sisters with oocyte arrest and prematurely condensed sperm chromosomes. A genome-wide linkage scan and exome sequencing revealed a homozygous variant in the gene for the thyroid… read more here.
Keywords: gene; oocyte arrest; sperm chromosomes; trip13 ... See more keywords