Prenatal 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

Michail Varras(General-Maternity District Hospital Helena Venizelou), Antonios Kondylios(General-Maternity District Hospital Helena Venizelou), Eleni Sekerli(Euromedica), Stella Akrivi(Princess Royal Maternity Hospital), Fani‐Niki Varra(Democritus University of Thrace), Anastasia Konstantinidou(National and Kapodistrian University of Athens), Viktoria‐Konstantina Varra(University of Patras), Apostolos Fasoulopoulos(General-Maternity District Hospital Helena Venizelou), Anastasios Xefteris(Euromedica), Antonia Arampatzi(Euromedica)
Journal of Molecular and Clinical Medicine
March 20, 2020
Cited by 0


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