Article
Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Aug 2015
Haine Elsa, Salles Jean-Pierre, Khau Van Kien Philippe, Conte-Auriol Françoise, Gennero Isabelle, Plancke Aurélie, Julia Sophie, Dulac Yves, Tauber Maithé, Edouard Thomas
Abstract excerpt
Marfan syndrome (MFS) is a rare connective tissue disorder caused by mutation in the gene encoding the extracellular matrix protein fibrillin-1 (FBN1), leading to transforming growth factor-beta (TGF-β) signaling dysregulation. Although decreased axial and peripheral bone mineral density (BMD) has been reported in adults with MFS, data about the evolution of bone mass during childhood and adolescence are limited....
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