Pathogenic variant in NLRP7 (19q13.42) associated with recurrent gestational trophoblastic disease: Data from early embryo development observed during in vitro fertilization
نویسندگان
چکیده
منابع مشابه
Pathogenic variant in NLRP7 (19q13.42) associated with recurrent gestational trophoblastic disease: Data from early embryo development observed during in vitro fertilization
OBJECTIVE To describe in vitro development of human embryos derived from an individual with a homozygous pathogenic variant in NLRP7 (19q13.42) and recurrent hydatidiform mole (HM), an autosomal recessive condition thought to occur secondary to an oocyte defect. METHODS A patient with five consecutive HM pregnancies was genomically evaluated via next generation sequencing followed by controll...
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ژورنال
عنوان ژورنال: Clinical and Experimental Reproductive Medicine
سال: 2017
ISSN: 2233-8233,2233-8241
DOI: 10.5653/cerm.2017.44.1.40