Geleophysic dysplasia: a novel in-frame deletion of a tandem repeat in the ADAMTSL2 gene

Am J Med Genet A. 2015 Aug;167A(8):1949-51. doi: 10.1002/ajmg.a.37106. Epub 2015 Apr 6.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ADAM Proteins / genetics*
  • ADAMTS Proteins
  • Adult
  • Bone Diseases, Developmental / genetics*
  • Gene Deletion*
  • Humans
  • Limb Deformities, Congenital / genetics*
  • Male
  • Mutation
  • Tandem Repeat Sequences*
  • Young Adult

Substances

  • ADAM Proteins
  • ADAMTS Proteins
  • ADAMTSL2 protein, human

Supplementary concepts

  • Acromicric dysplasia