Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia


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Allali S., Le Goff C., Pressac-Diebold I., Pfennig G., Mahaut C., Dagoneau N., ...More

JOURNAL OF MEDICAL GENETICS, vol.48, no.6, pp.417-421, 2011 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 48 Issue: 6
  • Publication Date: 2011
  • Doi Number: 10.1136/jmg.2010.087544
  • Journal Name: JOURNAL OF MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded
  • Page Numbers: pp.417-421

Abstract

Background Geleophysic dysplasia (GD, OMIM 231050) is an autosomal recessive disorder characterised by short stature, small hands and feet, stiff joints, and thick skin. Patients often present with a progressive cardiac valvular disease which can lead to an early death. In a previous study including six GD families, we have mapped the disease gene on chromosome 9q34.2 and identified mutations in the A Disintegrin And Metalloproteinase with Thrombospondin repeats-like 2 gene (ADAMTSL2).