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- Title
Long-Term Clinical Outcome and Carrier Phenotype in Autosomal Recessive Hypophosphatemia Caused by a Novel DMP1 Mutation.
- Authors
Mäkitie, Outi; Pereira, Renata C.; Kaitila, Ilkka; Turan, Serap; Bastepe, Murat; Laine, Tero; Kröger, Heikki; Cole, William G.; Jüppner, Harald
- Abstract
The article discusses a study on a Finnish family with two adults affected with an autosomal recessive form of hypophosphatemia (ARHP). The homozygous patients had severe phenotype with skeletal dysplasia while the heterozygous individuals were healthy but with mild carrier phenotype. The family was identified by the Finnish Skeletal Dysplasia Registry. It concludes that heterozygosity for the DMP1 mutation was associated with mild ARHP while skeletal phenotype in ARHP may be more severe than those observed in other forms of ARHP rickets.
- Subjects
FINLAND; FAMILIAL hypophosphatemia; FAMILIES; DYSPLASIA; HETEROZYGOSITY
- Publication
Journal of Bone & Mineral Research, 2010, Vol 25, Issue 10, p2165
- ISSN
0884-0431
- Publication type
Article
- DOI
10.1002/jbmr.105