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Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations.

AuthorsM Holder-Espinasse, F Escande, E Mayrargue, A Dieux-Coeslier, D Fron, A Doual-Bisser, O Boute-Benejean, Y Robert, N Porchet, S Manouvrier-Hanu
JournalJournal of medical genetics (J Med Genet) Vol. 41 Issue 6 Pg. e78 (Jun 2004) ISSN: 1468-6244 [Electronic] England
PMID15173244 (Publication Type: Case Reports, Letter)
Chemical References
  • Bone Morphogenetic Proteins
  • Growth Differentiation Factor 5
Topics
  • Abnormalities, Multiple (genetics, pathology)
  • Bone Morphogenetic Proteins (genetics)
  • Child
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Fingers (abnormalities)
  • Growth Differentiation Factor 5
  • Hand Deformities, Congenital (pathology)
  • Hip (abnormalities)
  • Humans
  • Male
  • Mutation
  • Pedigree
  • Tooth Abnormalities (pathology)

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