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https://hdl.handle.net/2440/10646
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Type: | Journal article |
Title: | Apert syndrome results from localised mutations of FGFR2 and is allelic with Crouzon syndrome |
Author: | Wilkie, A. Slaney, S. Oldridge, M. Poole, M. Ashworth, G. Hockley, A. Hayward, R. David, D. Pulleyn, L. Rutland, P. Malcolm, S. Winter, R. Reardon, W. |
Citation: | Nature Genetics, 1995; 9(2):165-172 |
Publisher: | Nature Publishing Co. |
Issue Date: | 1995 |
ISSN: | 1061-4036 1546-1718 |
Statement of Responsibility: | Andrew O.m. Wilkie ; Sarah F. Slaney ; Michael Oldridge ; Michael D. Poole ; Geraldine J. Ashworth ; Anthony D. Hockley ; Richard D. Hayward ; David J. David ; Louise J. Pulleyn ; Paul Rutland ; Susan Malcolm ; Robin M. Winter ; William Reardon |
Abstract: | Apert syndrome is a distinctive human malformation comprising craniosynostosis and severe syndactyly of the hands and feet. We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied. Crouzon syndrome, characterized by craniosynostosis but normal limbs, was previously shown to result from allelic mutations of the third Ig domain of FGFR2. The contrasting effects of these mutations provide a genetic resource for dissecting the complex effects of signal transduction through FGFRs in cranial and limb morphogenesis. |
Keywords: | Humans Craniofacial Dysostosis Acrocephalosyndactylia Syndactyly Receptor Protein-Tyrosine Kinases Receptors, Fibroblast Growth Factor DNA, Complementary Genetic Markers Restriction Mapping Amino Acid Sequence Base Sequence Genotype Mutation Polymorphism, Single-Stranded Conformational Alleles Exons Molecular Sequence Data Female Male Receptor, Fibroblast Growth Factor, Type 2 |
DOI: | 10.1038/ng0295-165 |
Published version: | http://dx.doi.org/10.1038/ng0295-165 |
Appears in Collections: | Aurora harvest 7 Surgery publications |
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