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A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report

Osteogenesis imperfecta (OI) and other decreased bone density disorders comprise a heterogeneous group of heritable diseases with skeletal fragility. Recently, it was discovered that mutations in SGMS2, encoding sphingomyelin synthetase 2, result in aberrant sphingomyelin metabolism and lead to a no...

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Detalles Bibliográficos
Autores principales:	Mäkitie, R. E., Pekkinen, M., Morisada, N., Kobayashi, D., Yonezawa, Y., Nishimura, G., Ikegawa, S., Mäkitie, O.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer US 2021
Materias:	Original Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8531111/ https://www.ncbi.nlm.nih.gov/pubmed/34156493 http://dx.doi.org/10.1007/s00223-021-00878-5

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