Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability

Mutations have been reported for several craniosynostotic disorders in exon Illa (exon U or 7) or Illc (exon B or 9) of the fibroblast growth factor receptor 2 gene (FGFR2). Among the conditions with FGFR2 mutations are two autosomal dominant syndromes, Crouzon and Jackson–Weiss. In this study, 24 C...

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Veröffentlicht in:	Human molecular genetics 1995-07, Vol.4 (7), p.1229-1233
Hauptverfasser:	Park, Woo-Jin, Meyers, Gregory A., Li, Xiang, Theda, Christiane, Day, Donald, Oriow, Seth J., Jones, Marilyn C., Jabs, Ethylin Wang
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Amino Acid Sequence Base Sequence Biological and medical sciences Craniofacial Dysostosis - epidemiology Craniofacial Dysostosis - genetics Craniosynostoses - complications Craniosynostoses - epidemiology Craniosynostoses - genetics craniosynostosis Crouzon's syndrome Diseases of the osteoarticular system Exons Female FGFR2 gene fibroblast growth factor receptors Genetic Heterogeneity Genetic Variation Humans Jackson-Weiss syndrome Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations man Medical sciences Molecular Sequence Data Mutation Phenotype Receptor Protein-Tyrosine Kinases - genetics Receptor, Fibroblast Growth Factor, Type 2 Receptors, Fibroblast Growth Factor - genetics splicing Syndrome
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