A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome
- 1 November 2006
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 79 (5) , 935-941
- https://doi.org/10.1086/508433
Abstract
No abstract availableKeywords
This publication has 16 references indexed in Scilit:
- Mutations in different components of FGF signaling in LADD syndromeNature Genetics, 2006
- A single‐base change in the tyrosine kinase II domain of ovine FGFR3 causes hereditary chondrodysplasia in sheepAnimal Genetics, 2006
- FGFs, their receptors, and human limb malformations: Clinical and molecular correlationsAmerican Journal of Medical Genetics, 2002
- Multiple Activation Loop Conformations and Their Regulatory Properties in the Insulin Receptor's Kinase DomainJournal of Biological Chemistry, 2001
- Chemical Rescue of a Mutant Protein-tyrosine KinaseJournal of Biological Chemistry, 2000
- Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia PhenotypeAmerican Journal of Human Genetics, 2000
- A Novel Skeletal Dysplasia with Developmental Delay and Acanthosis Nigricans Is Caused by a Lys650Met Mutation in the Fibroblast Growth Factor Receptor 3 GeneAmerican Journal of Human Genetics, 1999
- Structure of the FGF Receptor Tyrosine Kinase Domain Reveals a Novel Autoinhibitory MechanismCell, 1996
- Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3Nature Genetics, 1996
- Fibroblast Growth Factor Receptor 3 Is a Negative Regulator of Bone GrowthCell, 1996