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All › Musculoskeletal Diseases › Musculoskeletal Abnormalities › Campomelic Dysplasia

Campomelic Dysplasia (0)

      Articles on Campomelic Dysplasia

      1. [Cis-ruptions of highly conserved non-coding genomic elements distant from the SOX9 gene in the Pierre Robin sequence].
        Sabina S Benko, Christopher T CT Gordon, ... Stanislas S Lyonnet

        Biol Aujourdhui 205(2):111-24 (2011) PMID 21831342

        We have used the SOX9 locus and campomelic dysplasia as a model to show that one or several endophenotypes within a complex syndrome may arise from a tissue-specific deregulation of a major developmental gene transcription. Our work has focused on one of these endophenotypes, SPR, characterized by t...
      2. A male newborn infant with fatco syndrome (fibular aplasia, tibial campomelia and oligodactyly): a case report.
        A A Karaman and H H Kahveci

        Genet Couns 21(3):285-8 (2010) PMID 20964118

        We report a male infant with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO syndrome). Radiographs showed a short angulated left tibia with fibular aplasia and ipsilateral oligodactyly. We consider our case the 7th patient with FATCO syndrome.
      3. Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9 ...
        Claire Lecointre, Olivier Pichon, ... Cédric Le Caignec

        Am J Med Genet A 149A(6):1183-1189 (2009) PMID 19449405