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Investigating the role of ASCC1 in the causation of bone fragility

Bi-allelic variants in ASCC1 cause the ultrarare bone fragility disorder “spinal muscular atrophy with congenital bone fractures-2” (SMABF2). However, the mechanism by which ASCC1 dysfunction leads to this musculoskeletal condition and the nature of the associated bone defect are poorly understood....

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Detalles Bibliográficos
Autores principales:	Voraberger, Barbara, Mayr, Johannes A., Fratzl-Zelman, Nadja, Blouin, Stéphane, Uday, Suma, Kopajtich, Robert, Koedam, Marijke, Hödlmayr, Helena, Wortmann, Saskia B., Csillag, Bernhard, Prokisch, Holger, van der Eerden, Bram C. J., El-Gazzar, Ahmed, Högler, Wolfgang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10348481/ https://www.ncbi.nlm.nih.gov/pubmed/37455927 http://dx.doi.org/10.3389/fendo.2023.1137573

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