Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.

doi:10.1016/j.ajhg.2011.08.002

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Article

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.

American journal of human genetics - 9 Sept 2011

Parry David A, Logan Clare V, Hayward Bruce E, Shires Michael, Landolsi Hanène, Diggle Christine, Carr Ian, Rittore Cécile, Touitou Isabelle, Philibert Laurent, Fisher Rosemary A, Fallahian Masoumeh, Huntriss John D, Picton Helen M, Malik Saghira, Taylor Graham R, Johnson Colin A, Bonthron David T, Sheridan Eamonn G

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 21885028
DOI: 10.1016/j.ajhg.2011.08.002
PMCID: PMC3169823

Genes

NLRP7

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