FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry
Author:
Affiliation:
1. Department of Human Genetics Emory University Atlanta Georgia 30322
2. Medical Genetics Institute Cedars‐Sinai Medical Center Los Angeles California
3. Department of Pediatrics UCLA School of Medicine Los Angeles California
Funder
National Institutes of Health
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.96
Reference35 articles.
1. Achondroplasia is defined by recurrent G380R mutations of FGFR3;Bellus G. A.;Am. J. Hum. Genet.,1995
2. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia
3. Hypochondroplasia: Molecular Analysis of the Fibroblast Growth Factor Receptor 3 Gene
4. Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3
5. Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype
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