Article
Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.
Annals of the rheumatic diseases - 1 Jun 2015
Banka Siddharth, Cain Stuart A, Carim Sabrya, Daly Sarah B, Urquhart Jill E, Erdem Günhan, Harris Jade, Bottomley Michelle, Donnai Dian, Kerr Bronwyn, Kingston Helen, Superti-Furga Andreas, Unger Sheila, Ennis Holly, Worthington Jane, Herrick Ariane L, Merry Catherine L R, Yue Wyatt W, Kielty Cay M, Newman William G
Abstract excerpt
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. METHODS...
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