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A neomorphic variant in SP7 alters sequence specificity and causes a high-turnover bone disorder

SP7/Osterix is a transcription factor critical for osteoblast maturation and bone formation. Homozygous loss-of-function mutations in SP7 cause osteogenesis imperfecta type XII, but neomorphic (gain-of-new-function) mutations of SP7 have not been reported in humans. Here we describe a de novo domina...

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Detalles Bibliográficos
Autores principales:	Lui, Julian C., Raimann, Adalbert, Hojo, Hironori, Dong, Lijin, Roschger, Paul, Kikani, Bijal, Wintergerst, Uwe, Fratzl-Zelman, Nadja, Jee, Youn Hee, Haeusler, Gabriele, Baron, Jeffrey
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8816926/ https://www.ncbi.nlm.nih.gov/pubmed/35121733 http://dx.doi.org/10.1038/s41467-022-28318-4

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