Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

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 immunoglobu...

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Veröffentlicht in:	Nature genetics 1995-02, Vol.9 (2), p.165-172
Hauptverfasser:	Wilkie, Andrew O.M., Slaney, Sarah F., Oldridge, Michael, Poole, Michael D., Ashworth, Geraldine J., Hockley, Anthony D., Hayward, Richard D., David, David J., Pulleyn, Louise J., Rutland, Paul, Malcolm, Susan, Winter, Robin M., Reardon, William
Format:	Artikel
Sprache:	eng
Schlagworte:	Acrocephalosyndactylia - genetics Agriculture Alleles Amino Acid Sequence Animal Genetics and Genomics Apert's syndrome Base Sequence Biological and medical sciences Biomedical and Life Sciences Biomedicine Cancer Research Craniofacial Dysostosis - genetics craniosynostosis Crouzon's syndrome Diseases of the osteoarticular system DNA, Complementary Exons Female FGFR2 gene fibroblast growth factor receptors Gene Function Genetic Markers Genotype Human Genetics Humans Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations man Medical sciences Molecular Sequence Data Mutation Polymorphism, Single-Stranded Conformational Receptor Protein-Tyrosine Kinases - genetics Receptor, Fibroblast Growth Factor, Type 2 Receptors, Fibroblast Growth Factor - genetics Restriction Mapping Syndactyly
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