Genetic Heterogeneity of Saethre-Chotzen Syndrome, Due to TWIST and FGFR Mutations

This publication has 30 references indexed in Scilit:

• Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.
  Journal of Medical Genetics, 1997
• Mutations of the TWIST gene in the Saethre-Chotzene syndrome
  Nature Genetics, 1997
• Mutations in TWIST, a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome
  Nature Genetics, 1997
• The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart
  Mammalian Genome, 1996
• Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
  Nature Genetics, 1996
• Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras.
  Proceedings of the National Academy of Sciences, 1996
• Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2
  Nature Genetics, 1994
• The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p.
  Journal of Medical Genetics, 1992
• Chromosome 7p – syndrome: Craniosynostosis with preservation of region 7p2
  American Journal of Medical Genetics, 1991
• Craniosynostosis, midfacial hypoplasia, and foot abnormalities: An autosomal dominant phenotype in a large Amish kindred
  The Journal of Pediatrics, 1976