ReviewAnnals of pediatric endocrinology & metabolism2017
Novel genetic cause of idiopathic short stature.
Review in Annals of pediatric endocrinology & metabolism, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis 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
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 60 citations in OpenAlex.
- Type 2 Diabetes Mellitus and COVID-19: A Narrative Review.Frontiers in endocrinology · 2021Pooled it
- Evaluation of Cytogenetic and Molecular Genetic Tests in Patients with Short Stature.Molecular syndromology · 2026Article
- Growth hormone therapy promotes bone growth in idiopathic short stature children by activating the IGF-1 pathway via IGFBP2-mediated inhibition of THBS1.In vitro cellular & developmental biology. Animal · 2025Article
- Real-life long-term efficacy and safety of recombinant human growth hormone therapy in children with short stature homeobox-containing deficiency.Endocrine connections · 2023Article
- Commentary on "Growth plate extracellular matrix defects and short stature in children".Annals of pediatric endocrinology & metabolism · 2022Article
- Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives.Endocrine connections · 2022Review
- Novel Insights Into the Genetic Causes of Short Stature in Children.TouchREVIEWS in endocrinology · 2022Review
- Common Polymorphisms of Growth Hormone: Growth Hormone Receptor Axis in Turkish Children with Short Stature.Turkish archives of pediatrics · 2022Article
- Pathways involved in pony body size development.BMC genomics · 2021Article
- Growth plate gene involment and isolated short stature.Endocrine · 2021Review
- Hsa_circularRNA_0079201 suppresses chondrocyte proliferation and endochondral ossification by regulating the microRNA‑140‑3p/SMAD2 signaling pathway in idiopathic short stature.International journal of molecular medicine · 2020Article
- Identification of novel genetic variants associated with short stature in a Baka Pygmies population.Human genetics · 2020Article
- Combined therapy with GnRH analogue and growth hormone increases adult height in children with short stature and normal pubertal onset.Endocrine · 2020Article
- Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations.Molecular genetics & genomic medicine · 2020Article
- A heterozygous point mutation of the ANKRD11 (c.2579C>T) in a Chinese patient with idiopathic short stature.Molecular genetics & genomic medicine · 2019Article
- Clinical value of genetic analysis in prenatal diagnosis of short femur.Molecular genetics & genomic medicine · 2019Article
- First-year predictors of health-related quality of life changes in short-statured children treated with human growth hormone.Journal of endocrinological investigation · 2019Article
- HeterozygousCase reports in endocrinology · 2018Article
- Short Stature: Understanding the Stature of Ethnicity in Height Determination.Indian journal of endocrinology and metabolismReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Traditionally, the growth hormone - insulin-like growth factor I (GH - IGF-I) axis is the most important signaling pathway in linear growth, and defects in this axis present as growth hormone deficiencies or IGF-I deficiencies. However, subtle changes in serum levels of GH or IGF-I, caused by gene mutations involved in the GH - IGF-I axis, can present as idiopathic short stature (ISS). This paper briefly discusses GHR and IGFALS. In addition, recent studies have shown that many factors, including paracrine signals, extracellular matrix, and intracellular mechanisms of chondrocytes, regulate the growth plate independent of the GH - IGF-I system. Rapid development of diagnostic technologies has enabled discovery of many genetic causes of ISS. This paper discusses 5 genes, SHOX, NPR2, NPPC, FGFR3, and ACAN, that may lead to better understanding of ISS.
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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.