A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and loeys–dietz syndrome

The transforming growth factor β (TGF-β) family of growth factors are key regulators of mammalian development and their dysregulation is implicated in human disease, notably, heritable vasculopathies including Marfan (MFS, OMIM #154700) and Loeys–Dietz syndromes (LDS, OMIM #609192). We described a s...

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Detalles Bibliográficos
Autores principales: Rienhoff, Hugh Young, Yeo, Chang-Yeol, Morissette, Rachel, Khrebtukova, Irina, Melnick, Jonathan, Luo, Shujun, Leng, Nan, Kim, Yeon-Jin, Schroth, Gary, Westwick, John, Vogel, Hannes, McDonnell, Nazli, Hall, Judith G, Whitman, Malcolm
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Periodicals, Inc. 2013
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885154/
https://www.ncbi.nlm.nih.gov/pubmed/23824657
http://dx.doi.org/10.1002/ajmg.a.36056

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