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Paper · 39749023

Monogenic causes of familial short stature.

Plachy L and 6 others. Front Endocrinol (Lausanne), 2024. Cited by 6 papers, by iCite.

11 sourcespapers-2026-11-12-0.1.0

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ConductScience Library. Monogenic causes of familial short stature. Papers, record 39749023. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/39749023

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Paper

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

Title
Monogenic causes of familial short stature.
PubMed
Journal
Front Endocrinol (Lausanne)
PubMed
Year
2024
PubMed
Publication types
Journal Article, Review, Research Support, Non-U.S. Gov't
PubMed
Citations, by iCite
6
iCite
Relative citation ratio, by iCite
1.45, provisional
iCite
Revised in PubMed
2026-07-01
PubMed

Authors7

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

OrderAuthorForenameKindORCID iD
1Plachy LLukas
2Dusatkova PPetra
3Amaratunga SAShenali Anne
4Neuman VVit
5Sumnik ZZdenek
6Lebl JJan
7Pruhova SStepanka

Source PubMed

Topics5

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

MeSH termMajor
Growth DisordersMajor topic
Body HeightMajor topic
Humans
Dwarfism
Phenotype

Source PubMed

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.

References73

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

OrderPMIDTitleJournalYearIn PapersSource
115,931,687Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.Hum Mutat2005https://conductscience.org/library/papers/15931687PubMed
225,110,390Skeletal Deformity Associated with SHOX Deficiency.Clin Pediatr Endocrinol2014https://conductscience.org/library/papers/25110390PubMed
324,915,122Genetic evaluation of short stature.J Clin Endocrinol Metab2014https://conductscience.org/library/papers/24915122PubMed
411,565,064A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.Am J Hum Genet2001https://conductscience.org/library/papers/11565064PubMed
535,877,324Review on Facial-Recognition-Based Applications in Disease Diagnosis.Bioengineering (Basel)2022https://conductscience.org/library/papers/35877324PubMed
630,864,634Genetic causes of isolated short stature.Arch Endocrinol Metab2019https://conductscience.org/library/papers/30864634PubMed
721,325,865Short stature due to SHOX deficiency: genotype, phenotype, and therapy.Horm Res Paediatr2011https://conductscience.org/library/papers/21325865PubMed
837,008,935Short stature related to Growth Hormone Insensitivity (GHI) in childhood.Front Endocrinol (Lausanne)2023https://conductscience.org/library/papers/37008935PubMed
923,182,825Isolated growth hormone deficiency type 2: from gene to therapy.Endocr Dev2012https://conductscience.org/library/papers/23182825PubMed
1024,335,034Heterozygous IGFALS gene variants in idiopathic short stature and normal children: impact on height and the IGF system.Horm Res Paediatr2013https://conductscience.org/library/papers/24335034PubMed

1 to 10 of 73

See all 73 references

Cited by4

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 6 citations.

PMIDTitleJournalYearIn PapersSource
42,784,019Brachydactyly Type A1 Caused by an IHH Variant in a Patient with Disproportionate Short Stature: A Case Report.Reports (MDPI)2026https://conductscience.org/library/papers/42784019PubMed
42,713,069Familial short stature: genetic architecture, risk stratification, and precision management.Front Endocrinol (Lausanne)2026https://conductscience.org/library/papers/42713069PubMed
41,242,745Genetic screening of the insulin-like growth factor 1 receptor gene in children born small for gestational age: the continuing importance of insulin-like growth factor 1 signaling.Endocr J2026https://conductscience.org/library/papers/41242745PubMed
40,723,048Idiopathic Short Stature in the Genomic Era: Integrating Auxology, Endocrinology, and Emerging Genetic Insights.Children (Basel)2025https://conductscience.org/library/papers/40723048PubMed

Genes0

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

None in this release.

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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