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Related Experiment Videos

Mutation detection in FGFR2 craniosynostosis syndromes

G E Hollway1, G K Suthers, E A Haan

  • 1Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, South Australia.

Human Genetics
|February 1, 1997
PubMed
Summary

Genetic mutations in FGFR2 cause craniosynostosis syndromes. Researchers identified a novel mutation in one patient and observed significant phenotypic variability in another, indicating that specific mutations do not always predict consistent clinical features.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Medical Genetics

Background:

  • Craniosynostosis syndromes, including Apert, Crouzon, and Pfeiffer syndromes, are often caused by mutations in fibroblast growth factor receptor (FGFR) genes.
  • Five specific autosomal dominant craniosynostosis syndromes are linked to FGFR gene mutations.