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

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...

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Autores principales: Piccolo, Pasquale, Mithbaokar, Pratibha, Sabatino, Valeria, Tolmie, John, Melis, Daniela, Schiaffino, Maria Cristina, Filocamo, Mirella, Andria, Generoso, Brunetti-Pierri, Nicola
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2014
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3984901/
https://ncbi.nlm.nih.gov/pubmed/24398790
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.283
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