Article
Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus.
Human mutation - 1 Dec 2022
Slim Rima, Fisher Rosemary, Milhavet Florian, Hemida Reda, Rojas Samantha, Rittore Cécile, Bagga Rashmi, Aguinaga Monica, Touitou Isabelle
Abstract excerpt
Hydatidiform mole (HM) is an abnormal human pregnancy characterized by excessive growth of placental trophoblasts and abnormal early embryonic development. Following a first such abnormal pregnancy, the risk for women of successive molar pregnancies significantly increases. To date variants in seven maternal-effect genes have been shown to cause recurrent HMs (RHM). NLRP7 is the major causative gene for RHM and...
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