SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.

Abstract excerpt

Myhre syndrome (MS, MIM 139210) is a connective tissue disorder that presents with short stature, short hands and feet, facial dysmorphic features, muscle hypertrophy, thickened skin, and deafness. Recurrent missense mutations in SMAD4 encoding for a transducer mediating transforming growth factor β (TGF-β) signaling are responsible for MS. We found that MS fibroblasts showed increased SMAD4 protein levels,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cryptorchidism
• Share to Hand Deformities, Congenital