@article{fb38013fc11b49b796cc28d0212dfb87,
title = "Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans",
abstract = "Hydatidiform mole (HM) is an abnormal human pregnancy with no embryo and cystic degeneration of placental villi. We report five mutations in the maternal gene NALP7 in individuals with familial and recurrent HMs. NALP7 is a member of the CATERPILLER protein family involved in inflammation and apoptosis. NALP7 is the first maternal effect gene identified in humans and is also responsible for recurrent spontaneous abortions, stillbirths and intrauterine growth retardation.",
author = "Sharlene Murdoch and Ugljesa Djuric and Batool Mazhar and Muheiddine Seoud and Rabia Khan and Rork Kuick and Rashmi Bagga and Renate Kircheisen and Asangla Ao and Bhawna Ratti and Samir Hanash and Rouleau, {Guy A.} and Rima Slim",
note = "Funding Information: We thank the family members for their participation, L. Zahed, T. Tulandi, A. Mehio, L. Karemera and P. Lepage. R.S. is supported by the Fonds de Recherche en Sant{\'e} du Qu{\'e}bec and by an operating grant and an international development grant from the Canadian Institutes of Health Research.",
year = "2006",
month = mar,
doi = "10.1038/ng1740",
language = "English (US)",
volume = "38",
pages = "300--302",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "3",
}