Ontology highlight
ABSTRACT:
SUBMITTER: Caburet S
PROVIDER: S-EPMC3302824 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Caburet Sandrine S Zavadakova Petra P Ben-Neriah Ziva Z Bouhali Kamal K Dipietromaria Aurélie A Charon Céline C Besse Céline C Laissue Paul P Chalifa-Caspi Vered V Christin-Maitre Sophie S Vaiman Daniel D Levi Giovanni G Veitia Reiner A RA Fellous Marc M
PloS one 20120313 3
<h4>Background</h4>The human condition known as Premature Ovarian Failure (POF) is characterized by loss of ovarian function before the age of 40. A majority of POF cases are sporadic, but 10-15% are familial, suggesting a genetic origin of the disease. Although several causal mutations have been identified, the etiology of POF is still unknown for about 90% of the patients.<h4>Methodology/principal findings</h4>We report a genome-wide linkage and homozygosity analysis in one large consanguineou ...[more]