A pilot clinical trial with losartan in Myhre syndrome

INTRODUCTION: Myhre syndrome (MS) is an ultra‐rare disorder due to pathogenic variants in the SMAD4 gene that encodes a protein regulating the TGF‐β pathway and extra‐cellular matrix (ECM) homeostasis. Main clinical features of MS include thickening of skin and joint stiffness. Previous studies show...

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Veröffentlicht in:Am J Med Genet A
Hauptverfasser: Cappuccio, Gerarda, Caiazza, Martina, Roca, Alessandro, Melis, Daniela, Iuliano, Antonella, Matyas, Gabor, Rubino, Marta, Limongelli, Giuseppe, Brunetti‐Pierri, Nicola
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley & Sons, Inc. 2020
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Original Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7898344/
https://ncbi.nlm.nih.gov/pubmed/33369056
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.62019
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