Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3

Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3

Objective: We present perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type I (TD1) in a fetus. Case Report: A 28-year-old woman was referred for genetic counseling at 22 weeks of gestation because of abnormal prenatal ultrasound findings. Level II ultrasound exam...

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Detalhes bibliográficos
Main Authors: Shin-Wen Chen, Chih-Ping Chen, Liang-Kai Wang, Schu-Rern Chern, Pei-Chen Wu, Yen-Ni Chen, Chen-Ju Lin, Wen-Ling Chen, Wayseen Wang
Formato: Artigo
Idioma:English
Publicado em: Elsevier 2017-02-01
Colecção:Taiwanese Journal of Obstetrics & Gynecology
Assuntos:
FGFR3
perinatal imaging findings
stop codon mutation
thanatophoric dysplasia type 1
Acesso em linha:http://www.sciencedirect.com/science/article/pii/S102845591630273X

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http://www.sciencedirect.com/science/article/pii/S102845591630273X

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