Article
Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting.
PLoS genetics - 1 Nov 2015
Sanchez-Delgado Marta, Martin-Trujillo Alejandro, Tayama Chiharu, Vidal Enrique, Esteller Manel, Iglesias-Platas Isabel, Deo Nandita, Barney Olivia, Maclean Ken, Hata Kenichiro, Nakabayashi Kazuhiko, Fisher Rosemary, Monk David
Abstract excerpt
Familial recurrent hydatidiform mole (RHM) is a maternal-effect autosomal recessive disorder usually associated with mutations of the NLRP7 gene. It is characterized by HM with excessive trophoblastic proliferation, which mimics the appearance of androgenetic molar conceptuses despite their diploid biparental constitution. It has been proposed that the phenotypes of both types of mole are associated with aberrant...
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