Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

Mechanisms leading to osteoporosis are incompletely understood. Genetic disorders with skeletal fragility provide insight into metabolic pathways contributing to bone strength. We evaluated 6 families with rare skeletal phenotypes and osteoporosis by next-generation sequencing. In all the families,...

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Detalles Bibliográficos
Autores principales: Pekkinen, Minna, Terhal, Paulien A., Botto, Lorenzo D., Henning, Petra, Mäkitie, Riikka E., Roschger, Paul, Jain, Amrita, Kol, Matthijs, Kjellberg, Matti A., Paschalis, Eleftherios P., van Gassen, Koen, Murray, Mary, Bayrak-Toydemir, Pinar, Magnusson, Maria K., Jans, Judith, Kausar, Mehran, Carey, John C., Somerharju, Pentti, Lerner, Ulf H., Olkkonen, Vesa M., Klaushofer, Klaus, Holthuis, Joost C.M., Mäkitie, Outi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483641/
https://www.ncbi.nlm.nih.gov/pubmed/30779713
http://dx.doi.org/10.1172/jci.insight.126180

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