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Article

X-linked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidney.

American journal of human genetics - 1 Mar 1990

Shields E D, Scriver C R, Reade T, Fujiwara T M, Morgan K, Ciampi A, Schwartz S

Abstract excerpt

Mutation at a locus (HPDR) on the X chromosome (McKusick 30780 [HPDR1]; 30781 [HPDR2]) causes impaired renal phosphate transport, hypophosphatemia, and an associated impairment in the process of mineralization in bone and teeth (X-linked hypophosphatemia [XLH]). We measured the dental pulp profile area (PRATIO [= pulp area/tooth area]) and serum phosphorus (Pi) values in uniformly treated XLH patients (six males,...

Topics

Adolescent
Adult
Dentin
Female
Gene Expression
Genetic Linkage
Humans
Hypophosphatemia, Familial
Kidney
Male
Mutation
Odontometry

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phosphates

Sex Factors

Tooth

X Chromosome

Source

Open in PubMed Open full text

Identifiers

PMID: 2155529
PMCID: PMC1683613

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2155529-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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