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 | Zendy

Michail Varras | Zendy; Apostolos Fasoulopoulos | Zendy; Anastasios Xefteris | Zendy; ViktoriaKonstantina Varra | Zendy; FaniNiki Varra | Zendy; Stella Akrivi | Zendy; Antonia Arampatzi | Zendy; Eleni Sekerli | Zendy; Anastasia Konstantinidou | Zendy; Antonios Kondylios | Zendy

Open Access

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

Author(s) -

Michail Varras,

Apostolos Fasoulopoulos,

Anastasios Xefteris,

ViktoriaKonstantina Varra,

FaniNiki Varra,

Stella Akrivi,

Antonia Arampatzi,

Eleni Sekerli,

Anastasia Konstantinidou,

Antonios Kondylios

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

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