Article
Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7).
Bone - 1 Aug 2020
Whyte Michael P, Campeau Philippe M, McAlister William H, Roodman G David, Kurihara Nori, Nenninger Angela, Duan Shenghui, Gottesman Gary S, Bijanki Vinieth N, Sedighi Homer, Veis Deborah J, Mumm Steven
Abstract excerpt
Juvenile Paget's disease (JPD) became in 1974 the commonly used name for ultra-rare heritable occurrences of rapid bone remodeling throughout of the skeleton that present in infancy or early childhood as fractures and deformity hallmarked biochemically by marked elevation of serum alkaline phosphatase (ALP) activity (hyperphosphatasemia). Untreated, JPD can kill during childhood or young adult life. In 2002, we...
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