Article
Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.
Journal of medical genetics - 1 Sept 2014
Nguyen Ngoc Minh Phuong, Zhang Li, Reddy Ramesh, Déry Christine, Arseneau Jocelyne, Cheung Annie, Surti Urvashi, Hoffner Lori, Seoud Muhieddine, Zaatari Ghazi, Bagga Rashmi, Srinivasan Radhika, Coullin Philippe, Ao Asangla, Slim Rima
Abstract excerpt
BACKGROUND: Hydatidiform mole (HM) is a human pregnancy with excessive trophoblastic proliferation and abnormal embryonic development that may be sporadic or recurrent. In the sporadic form, the HM phenotype is driven by an abnormal ratio of paternal to maternal genomes, whereas in the recurrent form, the HM phenotype is caused by maternal-recessive mutations, mostly in NLRP7, despite the diploid biparental...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.