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Article

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia.

Bone - 1 Nov 2014

Gannagé-Yared Marie-Hélène, Makrythanasis Periklis, Chouery Eliane, Sobacchi Cristina, Mehawej Cybel, Santoni Federico A, Guipponi Michel, Antonarakis Stylianos E, Hamamy Hanan, Mégarbané André

Abstract excerpt

INTRODUCTION: Hypophosphatemic rickets (HR) comprises a rare group of inherited diseases. Very recently, mutations in the dentin matrix protein 1 (DMP1) gene were identified in patients with an extremely rare autosomal recessive form of HR (ARHR). To date, very few cases of these mutations were reported. MATERIALS AND METHODS: A Lebanese consanguineous family with 2 affected sisters was studied. Patients aged 45...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25180662
DOI: 10.1016/j.bone.2014.08.014

Genes

DMP1
PTH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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