Ontology highlight
ABSTRACT:
SUBMITTER: Parry DA
PROVIDER: S-EPMC3169823 | biostudies-literature | 2011 Sep
REPOSITORIES: biostudies-literature
American journal of human genetics 20110901 3
Familial biparental hydatidiform mole (FBHM) is the only known pure maternal-effect recessive inherited disorder in humans. Affected women, although developmentally normal themselves, suffer repeated pregnancy loss because of the development of the conceptus into a complete hydatidiform mole in which extraembryonic trophoblastic tissue develops but the embryo itself suffers early demise. This developmental phenotype results from a genome-wide failure to correctly specify or maintain a maternal e ...[more]