Geleophysic dysplasia (GPHYSD) is a disorder characterized by dysmorphic features, stiff joints and cardiac involvement due to defects of TGF-β signaling. GPHYSD can be caused by mutations in FBN1, ADAMTLS2, and LTBP3 genes.
Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect / Piccolo, Pasquale; Sabatino, Valeria; Mithbaokar, Pratibha; Polishchuk, Elena; Hicks, John; Polishchuk, Roman; Bacino, Carlos A; Brunetti-Pierri, Nicola. - In: MOLECULAR GENETICS & GENOMIC MEDICINE. - ISSN 2324-9269. - (2019), p. e844. [10.1002/mgg3.844]
Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect
Piccolo, Pasquale;SABATINO, VALERIA;Brunetti-Pierri, Nicola
2019
Abstract
Geleophysic dysplasia (GPHYSD) is a disorder characterized by dysmorphic features, stiff joints and cardiac involvement due to defects of TGF-β signaling. GPHYSD can be caused by mutations in FBN1, ADAMTLS2, and LTBP3 genes.File in questo prodotto:
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