Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis
- 1 February 2002
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 70 (2) , 472-486
- https://doi.org/10.1086/338758
Abstract
No abstract availableKeywords
This publication has 85 references indexed in Scilit:
- 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
- Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinomaOncogene, 1999
- 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
- Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.Journal of Clinical Investigation, 1998
- A Novel Phenotypic Pattern in X-Linked Inheritance: Craniofrontonasal Syndrome Maps to Xp22Human Molecular Genetics, 1997
- Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3Nature Genetics, 1996
- Outline structures for the extracellular domains of the fibroblast growth factor receptorsNature Structural & Molecular Biology, 1995
- Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3Nature Genetics, 1995
- Many of the Immunoglobulin Superfamily Domains in Cell Adhesion Molecules and Surface Receptors Belong to a New Structural Set Which is close to That Containing Variable DomainsJournal of Molecular Biology, 1994
- Dominant erbliche AkrocephalosyndaktylieEuropean Journal of Pediatrics, 1964