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Paper · 11062477

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.

ADHR Consortium. Nat Genet, 2000. Cited by 1,140 papers, by iCite.

11 sourcespapers-2026-11-12-0.1.0

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ConductScience Library. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Papers, record 11062477. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/11062477

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Paper

PubMed's record of the paper, with iCite's citation figures. No abstract is shown.

Title
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.
PubMed
Journal
Nat Genet
PubMed
Year
2000
PubMed
Publication types
Comparative Study, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.
PubMed
Citations, by iCite
1,140
iCite
Relative citation ratio, by iCite
26.2
iCite
Revised in PubMed
2022-04-19
PubMed

Authors1

The authors in the order PubMed's record lists them, with the ORCID iDs it states.

OrderAuthorForenameKindORCID iD
1ADHR ConsortiumGroup

Source PubMed

Topics22

NLM's MeSH indexing of the paper, its major topics first.

MeSH termMajor
Chromosomes, Human, Pair 12Major topic
Fibroblast Growth FactorsMajor topic
GenesMajor topic
Genes, DominantMajor topic
Hypophosphatemia, FamilialMajor topic
Abnormalities, Multiple
Amino Acid Sequence
DNA Mutational Analysis
Europe
Female
Fibroblast Growth Factor-23
Genetic Heterogeneity
Humans
Lod Score
Male
Molecular Sequence Data
Pedigree
Point Mutation
Reverse Transcriptase Polymerase Chain Reaction
Sequence Alignment
Sequence Homology, Amino Acid
United States

Source PubMed

Grants4

Each grant PubMed's record writes, matched to the NIH project NIH's grant and paper links name for this paper, and each of those links the record does not write.

Grant, as the record writes itAgencyCountryNIH projectStated bySource
AG05793NIA NIH HHSUnited StatesPubMedPubMed
AR42228NIAMS NIH HHSUnited StatesR01AR042228PubMed and NIHNIH RePORTER
NS26630NINDS NIH HHSUnited StatesP01NS026630PubMed and NIHNIH RePORTER
R29AR042228NIHNIH RePORTER

Trials2

The trials whose ClinicalTrials.gov record lists the paper, and the trial numbers the paper's PubMed record names.

TrialTitleThe trial lists it asNamed in the paper's recordSource
NCT00099762Catheterization to Locate Mesenchymal Tumors in Patients With Tumor-Induced Osteomalacia or Oncogenic OsteomalaciaBackgroundClinicalTrials.gov
NCT02233322Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project.BackgroundClinicalTrials.gov

Comments and corrections0

PubMed's comments and corrections, NLM's own indexing: retractions first, then expressions of concern, errata and updates, and comments last.

None in this release.

References0

The papers the reference list in PubMed's record names, those in our copy of PubMed, in the list's order.

None in this release.

Cited by564

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 1,140 citations.

PMIDTitleJournalYearIn PapersSource
42,633,326Advances in FGF/FGFR Signaling: Implications for Disease and Therapy.MedComm (2020)2026https://conductscience.org/library/papers/42633326PubMed
42,620,374ETV1 Couples Reciprocal FGF23 and PTH Signaling to Renal CYP24A1 Regulation.Res Sq2026https://conductscience.org/library/papers/42620374PubMed
42,588,191Phosphate: An Anion Controlling Metabolic Functions.Nutrients2026https://conductscience.org/library/papers/42588191PubMed
42,412,262When X Does Not Mark the Spot: Autosomal Dominant and Recessive Forms of Renal Hypophosphatemic Rickets and Osteomalacia.Curr Osteoporos Rep2026https://conductscience.org/library/papers/42412262PubMed
42,375,710Recent research progress on the etiology and pathogenesis of tumor-induced osteomalacia: A review.J Bone Oncol2026https://conductscience.org/library/papers/42375710PubMed
42,138,629Hypophosphatemic rickets: diagnosis and treatment.Arch Endocrinol Metab2026https://conductscience.org/library/papers/42138629PubMed
42,123,522Molecular Basis of Rare Inherited Tubulopathies of the Kidney: A Primer for Clinicians.Int J Mol Sci2026https://conductscience.org/library/papers/42123522PubMed
42,077,167Fibroblast growth factor 23 at the crossroads of mineral metabolism and bone disease.Curr Opin Nephrol Hypertens2026https://conductscience.org/library/papers/42077167PubMed
42,065,796X-linked hypophosphatemia and spinal cord compression: a systematic review and illustrative case.Acta Neurochir (Wien)2026https://conductscience.org/library/papers/42065796PubMed
41,943,820Impaired bone matrix maturation and mineralization are prevalent in adolescent end-stage kidney disease.JBMR Plus2026https://conductscience.org/library/papers/41943820PubMed

1 to 10 of 564

See all 564 cited by

Genes6

The genes the Gene search release ties to the paper: Swiss-Prot's references first, then PubTator's text mining.

GeneNCBI Gene IDLinked byIn GenesSource
DYRK48,798Swiss-Prot's referenceshttps://conductscience.org/library/genes/8798NCBI Gene
FERRY357,102Swiss-Prot's referenceshttps://conductscience.org/library/genes/57102NCBI Gene
FGF238,074Swiss-Prot's referenceshttps://conductscience.org/library/genes/8074NCBI Gene
LPAR557,121Swiss-Prot's referenceshttps://conductscience.org/library/genes/57121NCBI Gene
TIGAR57,103Swiss-Prot's referenceshttps://conductscience.org/library/genes/57103NCBI Gene
PHEX5,251PubTator's text mininghttps://conductscience.org/library/genes/5251NCBI Gene

Drugs0

The drugs whose trials, in the Pipelines release, list the paper.

None in this release.

Data7

The data bank entries PubMed's record names. Trial numbers are under Trials.

Data bankAccessionSource
GENBANKAF263536GENBANK
GENBANKAF263537GENBANK
GENBANKAF263538GENBANK
GENBANKAF263541GENBANK
GENBANKAJ272205GENBANK
GENBANKAJ272206GENBANK
GENBANKAJ272207GENBANK

Data dates

The date of each source this release read.

PubMed
2026-11-06
PubMed
iCite
2026-11-05
iCite
PMC's ID file
2026-11-05
PMC's ID file
NIH RePORTER's grant and paper links
2026-11-01
NIH RePORTER's grant and paper links
Trials
2026-11-12
Gene search
2026-11-11
Pipelines
2026-09-18

Sources 11

  • ChEMBL, through Open TargetsCC BY-SA 3.0
  • ClinicalTrials.govNo license stated
  • HGNCCC0
  • iCiteCC BY 4.0
  • NCBI GenePublic domain (US government)
  • NIH RePORTER's grant and paper linksPublic domain
  • Open TargetsCC0 1.0
  • PMC's ID filePublic domain (US government)
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0
Each source's terms
  • ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • ClinicalTrials.govnone stated
  • HGNCCC0: https://www.genenames.org/about/license/
  • iCiteCC BY 4.0
  • NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • NIH RePORTER's grant and paper linksPublic domain (NIH RePORTER)
  • Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • PMC's ID fileNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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