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, Siddharth; Cain, Stuart; Carim, Sabrya; Daly, Sarah; Urquhart, Jill; Erdem, Guenhan; Harris, Jade; Bottomley, Michelle; Donnai, Dian; Kerr, Bronwyn; Kingston, Helen; Superti-Furga, Andreas; Unger, Sheila; Ennis, Holly; Worthington, Jane; Herrick, Ariane; Merry, Catherine; Yue, Wyatt; Kielty, Cay; Newman, William

doi:10.1136/annrheumdis-2013-204309

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

Atıf İçin Kopyala

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 İndekslerine Giren Dergi)

Yayın Türü: Makale / Tam Makale
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.