Document Detail

Clinical spectrum of fibroblast growth factor receptor mutations.
MedLine Citation:
PMID:  10425034     Owner:  NLM     Status:  MEDLINE    
During the last few years, it has been demonstrated that some syndromic craniosynostosis and short-limb dwarfism syndromes, a heterogeneous group comprising of 11 distinct clinical entities, are caused by mutations in one of three fibroblast growth factor receptor genes (FGFR1, FGFR2, and FGFR3). The present review list all mutations described to date in these three genes and the phenotypes associated with them. In addition, the tentative phenotype-genotype correlation is discussed, including the most suggested causative mechanisms for these conditions.
M R Passos-Bueno; W R Wilcox; E W Jabs; A L Sertié; L G Alonso; H Kitoh
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Human mutation     Volume:  14     ISSN:  1059-7794     ISO Abbreviation:  Hum. Mutat.     Publication Date:  1999  
Date Detail:
Created Date:  1999-08-20     Completed Date:  1999-08-20     Revised Date:  2012-06-05    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  115-25     Citation Subset:  IM    
Copyright Information:
Copyright 1999 Wiley-Liss, Inc.
Departamento Biologia, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
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MeSH Terms
Bone Diseases, Developmental / genetics
Mutation / genetics*
Nervous System Malformations / genetics
Point Mutation
Protein-Tyrosine Kinases*
Receptor Protein-Tyrosine Kinases / genetics*
Receptor, Fibroblast Growth Factor, Type 1
Receptor, Fibroblast Growth Factor, Type 2
Receptor, Fibroblast Growth Factor, Type 3
Receptors, Fibroblast Growth Factor / genetics*
Grant Support
Reg. No./Substance:
0/Receptors, Fibroblast Growth Factor; EC protein, human; EC protein, human; EC protein, human; EC Kinases; EC Protein-Tyrosine Kinases; EC, Fibroblast Growth Factor, Type 1; EC, Fibroblast Growth Factor, Type 2; EC, Fibroblast Growth Factor, Type 3
Erratum In:
Hum Mutat 2001 May;17(5):431

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