A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly-Reference-Cited by-同舟云学术

A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly

Published:2014-06-28 Issue:8 Volume:35 Page:959-963
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Makrythanasis Periklis¹²,Temtamy Samia³,Aglan Mona S.³,Otaify Ghada A.³,Hamamy Hanan¹,Antonarakis Stylianos E.¹²

Affiliation:

1. Department of Genetic Medicine and Development; University of Geneva; Geneva Switzerland

2. Service of Genetic Medicine; University Hospitals of Geneva; Geneva Switzerland

3. Department of Clinical Genetics; National Research Centre; Cairo Egypt

Funder

Bodossaki foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22597/fullpdf

Reference8 articles.

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2. Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype;Bellus;Am J Hum Genet,2000

3. Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3;Colvin;Nat Genet,1996

4. Fibroblast growth factor receptor 3 is a negative regulator of bone growth;Deng;Cell,1996

5. Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias;Foldynova-Trantirkova;Hum Mutat,2012

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