Clinical features and molecular genetic analysis of thanatophoric dysplasia type I in a neonate with a de novo c.2419 T > C (p. Ter807Arg) (X807R) mutation in FGFR3-Reference-Cited by-同舟云学术

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Clinical features and molecular genetic analysis of thanatophoric dysplasia type I in a neonate with a de novo c.2419 T > C (p. Ter807Arg) (X807R) mutation in FGFR3

Published:2019-12 Issue: Volume:111 Page:104297
ISSN:0014-4800
Container-title:Experimental and Molecular Pathology
language:en
Short-container-title:Experimental and Molecular Pathology

Author:

Jiang Gaoli,Chen Xuexin,Dai Dan,Cao Li,Qian Liling

Publisher

Elsevier BV

Subject

Clinical Biochemistry,Molecular Biology,Pathology and Forensic Medicine

Reference23 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010

2. Long-term survival in typical thanatophoric dysplasia type 1;Baker;Am. J. Med. Genet.,1997

3. The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor;Bonaventure;FEBS J.,2007

4. Thanatophoric dysplasia type I with syndactyly;Brodie;Am. J. Med. Genet.,1998

5. 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;Chen;Taiwan. J. Obstet. Gynecol.,2017

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