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Paper · 42784019

Brachydactyly Type A1 Caused by an IHH Variant in a Patient with Disproportionate Short Stature: A Case Report.

García de Pablo I and 4 others. Reports (MDPI), 2026.

11 sourcespapers-2026-11-12-0.1.0

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ConductScience Library. Brachydactyly Type A1 Caused by an IHH Variant in a Patient with Disproportionate Short Stature: A Case Report. Papers, record 42784019. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/42784019

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Paper

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

Title
Brachydactyly Type A1 Caused by an IHH Variant in a Patient with Disproportionate Short Stature: A Case Report.
Journal
Reports (MDPI)
Year
2026
Publication types
Case Reports, Journal Article
Revised in PubMed
2026-09-28

Source PubMed

Authors5

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

OrderAuthorForenameKindORCID iD
1García de Pablo IInéshttps://orcid.org/0000-0002-6609-2353
2Ontoria Betancort MCMaría Cristinahttps://orcid.org/0009-0006-1624-6779
3Martínez Bugallo FFranciscohttps://orcid.org/0000-0002-0380-3488
4Martín Pérez SESebastián Eustaquiohttps://orcid.org/0000-0002-5068-627X
5Martín Pérez IMIsidro Miguelhttps://orcid.org/0000-0003-0148-6105

Source PubMed

Topics0

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

None in this release.

Grants0

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.

None in this release.

Trials0

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

None in this release.

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.

References51

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

OrderPMIDTitleJournalYearIn PapersSource
139,749,023Monogenic causes of familial short stature.Front Endocrinol (Lausanne)2024https://conductscience.org/library/papers/39749023PubMed
232,274,914Dilemmas of growth hormone treatment for GH deficiency and idiopathic short stature: defining, distinguishing, and deciding.Minerva Pediatr2020https://conductscience.org/library/papers/32274914PubMed
325,741,868
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Genet Med2015https://conductscience.org/library/papers/25741868PubMed
427,418,125Signaling pathways regulating cartilage growth plate formation and activity.Semin Cell Dev Biol2017https://conductscience.org/library/papers/27418125PubMed
540,320,660Biological effects of recombinant human growth hormone therapy on metabolism in children with growth hormone deficiency: a review.J Pediatr Endocrinol Metab2025https://conductscience.org/library/papers/40320660PubMed
642,187,530Effectiveness and Safety of Hormonal Treatments in Children with Growth Disorders: A Systematic Review of Clinical Evidence.Clin Pract2026https://conductscience.org/library/papers/42187530PubMed
729,959,430Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.Nat Rev Endocrinol2018https://conductscience.org/library/papers/29959430PubMed
824,762,113Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.J Clin Endocrinol Metab2014https://conductscience.org/library/papers/24762113PubMed
929,961,570Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes.Am J Hum Genet2018https://conductscience.org/library/papers/29961570PubMed
1036,537,518ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents.Pediatr Diabetes2022https://conductscience.org/library/papers/36537518PubMed

1 to 10 of 51

See all 51 references

Cited by0

The papers in our copy of PubMed whose reference list names this one, newest first.

None in this release.

Genes2

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
GH12,688PubTator's text mininghttps://conductscience.org/library/genes/2688NCBI Gene
SHOX6,473PubTator's text mininghttps://conductscience.org/library/genes/6473NCBI Gene

Drugs0

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

None in this release.

Data0

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

None in this release.

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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