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Article

Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia.

Bone - 1 Feb 2010

Turan Serap, Aydin Cumhur, Bereket Abdullah, Akcay Teoman, Güran Tülay, Yaralioglu Betul Akmen, Bastepe Murat, Jüppner Harald

Abstract excerpt

An autosomal recessive form of hypophosphatemia (ARHP) was recently shown to be caused by homozygous mutations in DMP1, the gene encoding dentin matrix protein-1 (DMP-1), a non-collagenous bone matrix protein with an important role in the development and mineralization of bone and teeth. Here, we describe a previously not reported consanguineous ARHP kindred in which the three affected individuals carry a novel...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19796717
DOI: 10.1016/j.bone.2009.09.016
PMCID: PMC2818230

Genes

FGF23
DMP1
PTH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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