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Assessment of Bone Mineral Status in Children With Marfan Syndrome

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with skeletal involvement. It is caused by mutations in fibrillin1 (FBN1) gene resulting in activation of TGF-β, which developmentally regulates bone mass and matrix properties. There is no consensus regarding bone mineralizat...

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Detalles Bibliográficos
Autores principales: Grover, Monica, Brunetti-Pierri, Nicola, Belmont, John, Phan, Kelly, Tran, Alyssa, Shypailo, Roman J, Ellis, Kenneth J, Lee, Brendan H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3429634/
https://www.ncbi.nlm.nih.gov/pubmed/22887731
http://dx.doi.org/10.1002/ajmg.a.35540