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Article

Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Oct 2010

Mäkitie Outi, Pereira Renata C, Kaitila Ilkka, Turan Serap, Bastepe Murat, Laine Tero, Kröger Heikki, Cole William G, Jüppner Harald

Abstract excerpt

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 provide a detailed description of the associated skeletal dysplasia and carrier phenotype. The two adult patients...

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Source

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Identifiers

PMID: 20499351
DOI: 10.1002/jbmr.105
PMCID: PMC3153319

Genes

DMP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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