Clinical and Molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal-Reference-Cited by-同舟云学术

Clinical and Molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal

Published:2009-02 Issue:2 Volume:75 Page:150-156
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Almeida MR,Campos-Xavier AB,Medeira A,Cordeiro I,Sousa AB,Lima M,Soares G,Rocha M,Saraiva J,Ramos L,Sousa S,Marcelino JP,Correia A,Santos HG

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2008.01123.x/fullpdf

Reference22 articles.

1. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia;Shiang;Cell,1994

2. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia;Rousseau;Nature,1994

3. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia;Bellus;Nat Genet,1995

4. A common FGFR3 mutation in achondroplasia;Prinos;Hum Mol Genet,1995

5. Comparison of clinical - radiological and molecular findings in hypochondroplasia;Prinster;Am J Med Genet,1998

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