Molecular pathology and embryology of Hoxd13 associated limb malformations

Doctoral thesis German OPEN
Kuss, Pia;
(2010)
  • Publisher: Freie Universität Berlin Universitätsbibliothek, Garystr. 39, 14195 Berlin
  • Subject: Synpolydactylie | 570 Life sciences | Hox-Gene | Retinsäure | 570 Biowissenschaften; Biologie
    • ddc: ddc:570
    mesheuropmc: embryonic structures

Patients with inherited synpolydactyly (SPD) show limb malformations characterized by one ore more additional digits and toes and fusions of those. A mutation within Hoxd13 comprising an expansion of a polyalanine repeat is the cause for SPD. The length of the expansion... View more
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