Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis

Banka S., Cain S. A., Carim S., Daly S. B., Urquhart J. E., Erdem G., ...Daha Fazla

ANNALS OF THE RHEUMATIC DISEASES, cilt.74, sa.6, ss.1249-1256, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 74 Sayı: 6
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1136/annrheumdis-2013-204309
  • Dergi Adı: ANNALS OF THE RHEUMATIC DISEASES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1249-1256
  • Çanakkale Onsekiz Mart Üniversitesi Adresli: Hayır

Özet

Objectives Leri's pleonosteosis (LP) is an autosomal dominant rheumatic condition characterised by flexion contractures of the interphalangeal joints, limited motion of multiple joints, and short broad metacarpals, metatarsals and phalanges. Scleroderma-like skin thickening can be seen in some individuals with LP. We undertook a study to characterise the phenotype of LP and identify its genetic basis.