Sökning: "brachydactyly type A1"

Hittade 1 avhandling innehållade orden brachydactyly type A1.

1. 1. Clinical and genetic studies of three inherited skeletal disorders

   Författare :Eva-Lena Stattin; Göran Roos; Niklas Dahl; Jaakko Ignatius; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; skeletal disorders; osteochondritis dissecans; ACAN-gene; multiple epiphyseal dysplasia; brachydactyly type A1; IHH-gene; Medical genetics; Medicinsk genetik; klinisk genetik; Clinical Genetics;

   Sammanfattning : Mutations in genes of importance for cartilage development may lead to skeletal malformations, chondroskeletal dysfunction and increased susceptibility to degenerative joint disease. Characterization of these mutations and identification of molecular pathways for the corresponding gene products have contributed to our understanding of mechanisms regulating skeletal patterning, endochondral ossification and joint formation. LÄS MER