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Article

[Autosomal recessive hypophosphatemic rickets/osteomalacia caused by a novel mutation in the DMP1 gene: a case report and literature review].

Zhonghua nei ke za zhi - 1 Jul 2026

Xie L R, Ni Q, Chen Y L, Pei Y, Lyu Z H, Ba J M, Dou J T

Abstract excerpt

Hereditary hypophosphatemic rickets/osteomalacia encompasses a group of disorders characterized by impaired bone mineralization resulting from phosphate deficiency, which can lead to skeletal deformities and growth retardation when onset occurs in early childhood. A patient with autosomal recessive hypophosphatemic rickets type 1 (ARHR1) caused by a mutation in the dentin matrix protein 1 (DMP1) gene was admitted...

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Share to Extracellular Matrix Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42427049
DOI: 10.3760/cma.j.cn112138-20260113-00030

Genes

DMP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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[Autosomal recessive hypophosphatemic rickets/osteomalacia caused by a novel mutation in the DMP1 gene: a case report and literature review].PMID 42427049Read ↗

First report in Argentina of a pathogenic DMP1 variant associated with autosomal recessive hypophosphatemic rickets.Semantic proximity Read ↗

The First Compound Heterozygous Mutations of DMP1 Causing Rare Autosomal Recessive Hypophosphatemic Rickets Type 1.Semantic proximity Read ↗

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

Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets.Semantic proximity Read ↗

DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.Semantic proximity Read ↗

Targeted resequencing of phosphorus metabolism‑related genes in 86 patients with hypophosphatemic rickets/osteomalacia.Semantic proximity Read ↗

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia.Semantic proximity Read ↗

Hypophosphatemic rickets in an Italian multicentric cohort of 24 subjects: a clinical and molecular characterisation.Semantic proximity Read ↗

Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a Novel ENPP1 Variant in a Taiwanese GirlSemantic proximity Read ↗

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

The role of DMP1 in autosomal recessive hypophosphatemic rickets.Semantic proximity Read ↗

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