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Article

Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets.

European journal of human genetics : EJHG - 1 Jan 1993

Bolino A, Devoto M, Enia G, Zoccali C, Weissenbach J, Romeo G

Abstract excerpt

Human X-linked dominant hypophosphatemic rickets (HPDR I) is characterized by hypophosphatemia, hyperphosphaturia, abnormal vitamin D metabolism, and rickets/osteomalacia. Two closely linked hypophosphatemic genes, hypophosphatemia (Hyp) and Gyro (Gy), are known on the mouse X chromosome. The Hyp...

Topics

Adult
Base Sequence
Chromosome Mapping
Genetic Linkage
Genetic Markers
Humans
Hypophosphatemia, Familial
Lod Score
Male
Molecular Sequence Data
Phenotype
Polymorphism, Restriction Fragment Length

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

X Chromosome

Source

Identifiers

PMID: 7915957
DOI: 10.1159/000472424

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7915957-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Click a neighbor to travelStep 1 · 12 closest

Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets.PMID 7915957Read ↗

Multilocus mapping of the X-linked hypophosphatemic rickets gene.Semantic proximity Read ↗

New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice.Semantic proximity Read ↗

Fine genetic mapping of the Hyp mutation on mouse chromosome X.Semantic proximity Read ↗

X-linked hypophosphataemia: a homologous disorder in humans and mice.Semantic proximity Read ↗

The X chromosome deletion in HYP mice extends into the intergenic region but does not include the SAT gene downstream from Phex.Semantic proximity Read ↗

Pex Gene Deletions in Gy and Hyp Mice Provide Mouse Models for X-Linked HypophosphatemiaSemantic proximity Read ↗

Determination of a molecular map position for Hyp using a new interspecific backcross produced by in vitro fertilization.Semantic proximity Read ↗

PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia.Semantic proximity Read ↗

X-linked hypophosphataemia: a homologous phenotype in humans and mice with unusual organ-specific gene dosage.Semantic proximity Read ↗

Overexpression of human PHEX under the human beta-actin promoter does not fully rescue the Hyp mouse phenotype.Semantic proximity Read ↗

X-linked hypophosphatemic rickets: a rare case report.Semantic proximity Read ↗

Conserved loci on the X chromosome confer phosphate homeostasis in mice and humans.Semantic proximity Read ↗

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