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

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...

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Veröffentlicht in:Annals of the rheumatic diseases 2015-06, Vol.74 (6), p.1249-1256
Hauptverfasser: 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
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Sprache:eng
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