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Osteoglophonic dysplasia: A 'common' mutation in a rare disease.

AuthorsA J Sow, R Ramli, Z A Latiff, S Ichikawa, A K Gray, R Nordin, M N Abd Jabar, S H A Primuharsa Putra, C H Siar, M J Econs
JournalClinical genetics (Clin Genet) Vol. 78 Issue 2 Pg. 197-8 (Aug 2010) ISSN: 1399-0004 [Electronic] Denmark
PMID20236123 (Publication Type: Case Reports, Letter, Research Support, N.I.H., Extramural)
Chemical References
  • FGFR1 protein, human
  • Receptor, Fibroblast Growth Factor, Type 1
Topics
  • Adolescent
  • Base Sequence
  • Child, Preschool
  • DNA Mutational Analysis
  • Dwarfism (genetics)
  • Exons (genetics)
  • Facies
  • Female
  • Heterozygote
  • Humans
  • Molecular Sequence Data
  • Mutation (genetics)
  • Receptor, Fibroblast Growth Factor, Type 1 (genetics)

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