Ontology highlight
ABSTRACT:
SUBMITTER: Maddirevula S
PROVIDER: S-EPMC5630161 | biostudies-literature | 2017 Oct
REPOSITORIES: biostudies-literature
American journal of human genetics 20170928 4
Infertility is a relatively common disorder of the reproductive system and remains unexplained in many cases. In vitro fertilization techniques have uncovered previously unrecognized infertility phenotypes, including oocyte maturation arrest, the molecular etiology of which remains largely unknown. We report two families affected by female-limited infertility caused by oocyte maturation failure. Positional mapping and whole-exome sequencing revealed two homozygous, likely deleterious variants in ...[more]