Open AccessPrenatal diagnosis of fetal thanatophoric dysplasia type 1 with de novo c.2419T > G (p. Ter807Gly) (X807G) gene mutation in fibroblast growth factor receptor 3 (FGFR3) showing increased nuchal translucency at the first trimester of gestation: A case report with review of the literature
Publication year - 2020
Publication title -
journal of molecular and clinical medicine
Language(s) - English
Resource type - Journals
eISSN - 2617-5282
pISSN - 2616-3632
DOI - 10.31083/j.jmcm.2020.01.001
Subject(s) - fibroblast growth factor receptor 3 , achondroplasia , fetus , prenatal diagnosis , gnas complex locus , medicine , dysplasia , pathology , endocrinology , biology , pregnancy , genetics , receptor , fibroblast growth factor , gene