Long-Term Clinical Outcome and Carrier Phenotype in Autosomal Recessive Hypophosphatemia Caused by a Novel DMP1 Mutation

Homozygous inactivating mutations in DMP1 (dentin matrix protein 1), the gene encoding a noncollagenous bone matrix protein expressed in osteoblasts and osteocytes, cause autosomal recessive hypophosphatemia (ARHP). Herein we describe a family with ARHP owing to a novel homozygous DMP1 mutation and...

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Principais autores: Mäkitie, Outi, Pereira, Renata C, Kaitila, Ilkka, Turan, Serap, Bastepe, Murat, Laine, Tero, Kröger, Heikki, Cole, William G, Jüppner, Harald
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley Subscription Services, Inc., A Wiley Company 2010
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3153319/
https://ncbi.nlm.nih.gov/pubmed/20499351
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.105
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