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, ss.1249-1256, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 74 Konu: 6
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1136/annrheumdis-2013-204309
  • Dergi Adı: ANNALS OF THE RHEUMATIC DISEASES
  • Sayfa Sayıları: ss.1249-1256

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.