Article
A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles.
Molecular human reproduction - 1 Jan 2008
Kou Y C, Shao L, Peng H H, Rosetta R, del Gaudio D, Wagner A F, Al-Hussaini T K, Van den Veyver I B
Abstract excerpt
A complete hydatidiform mole (CHM) is an abnormal pregnancy with hyperproliferative vesicular trophoblast and no fetal development. Most CHM are sporadic and androgenetic, but recurrent HM have biparental inheritance (BiHM) with disrupted DNA methylation at differentially methylated regions (DMRs) of imprinted loci. Some women with recurrent BiHM have mutations in the NLRP7 gene on chromosome 19q13.42. Using...
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