Trial reportHormone research in paediatrics2014
Copy number variants in short children born small for gestational age.
Trial report in Hormone research in paediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 2 syntheses or guidelines pooled it, 48 citations in OpenAlex.
- X-linked genes influence various complex traits in dairy cattle.BMC genomics · 2023Pooled it
- International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood.Endocrine reviews · 2023Guideline
- Population structure, selection signal and introgression of gamecocks revealed by whole genome sequencing.Journal of animal science and biotechnology · 2025Article
- Clinical and Genetic Characterization of a Cohort of Small-for-Gestational-Age Patients: Cost-Effectiveness of Whole-Exome Sequencing and Effectiveness of Treatment with GH.Journal of clinical medicine · 2024Article
- Comprehensive assessment of the genetic characteristics of small for gestational age newborns in NICU: from diagnosis of genetic disorders to prediction of prognosis.Genome medicine · 2023Article
- Article
- Identification of copy number variants contributing to hallux valgus.Frontiers in genetics · 2023Article
- A Genetic Approach in the Evaluation of Short Stature.The Eurasian journal of medicine · 2022Article
- Prevalence of copy number variants (CNVs) and rhGH treatment efficacy in an Italian cohort of children born small for gestational age (SGA) with persistent short stature associated with a complex clinical phenotype.Journal of endocrinological investigation · 2022Article
- Review
- Focused Revision: ACMG practice resource: Genetic evaluation of short stature.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity.European journal of endocrinology · 2020Article
- A Track Record on SHOX: From Basic Research to Complex Models and Therapy.Endocrine reviews · 2016Review
- Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray.Molecular cytogenetics · 2016Article
- Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.Journal of human genetics · 2015Article
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 3 countries.
Funding
Abstract
BACKGROUND/
aimsIn addition to genome-wide association studies (GWAS), height-associated genes may be uncovered by studying individuals with extreme short or tall stature.
methodsGenome-wide analysis for copy number variants (CNVs), using single nucleotide polymorphism (SNP) arrays, was performed in 49 index cases born small for gestational age with persistent short stature. Segregation analysis was performed, and genes in CNVs were compared with information from GWAS, gene expression in rodents' growth plates, and published information.
resultsCNVs were detected in 13 cases. In 5 children a known cause of short stature was found: UPD7, UPD14, a duplication of the SHOX enhancer region, an IGF1R deletion, and a 22q11.21 deletion. In the remaining 8 cases, potential pathogenic CNVs were detected, either de novo (n = 1), segregating (n = 2), or not segregating with short stature (n = 5). Bioinformatic analysis of the de novo and segregating CNVs suggested that HOXD4, AGPS, PDE11A, OSBPL6, PRKRA and PLEKHA3, and possibly DGKB and TNFRSF11B are potential candidate genes. A SERPINA7 or NRK defect may be associated with an X-linked form of short stature.
conclusionSNP arrays detected 5 known causes of short stature with prenatal onset and suggested several potential candidate genes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.