ReviewArchives of endocrinology and metabolism2019
Genetic causes of isolated short stature.
Review in Archives of endocrinology and metabolism, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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
25 citing papers in PubMed, 50 citations in OpenAlex.
- Healthy short stature.Archives of endocrinology and metabolism · 2026Review
- Evaluation of Cytogenetic and Molecular Genetic Tests in Patients with Short Stature.Molecular syndromology · 2026Article
- Submicroscopic 16q24.2-q24.3 deletion in a family with nonsyndromic short stature.Human genome variation · 2026Article
- GH1 gene polymorphism in Polish children and adolescents with short stature - reanalysis based on diverse growth hormone secretion.Endocrine · 2026Article
- Polymorphism of the HMGA2 gene in Polish children and adolescents with short stature and diverse growth hormone secretion.Journal of applied genetics · 2025Article
- Optimising diagnosis in children with short stature: an integrated clinical and NGS approach.Endocrine connections · 2025Article
- Idiopathic Short Stature in the Genomic Era: Integrating Auxology, Endocrinology, and Emerging Genetic Insights.Children (Basel, Switzerland) · 2025Review
- Gut microbiome and short-chain fatty acids associated with the efficacy of growth hormone treatment in children with short stature.Frontiers in pediatrics · 2025Article
- [Discussion on the genetic mechanisms and efficacy of growth hormone therapy in children with idiopathic short stature].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Review
- Monogenic causes of familial short stature.Frontiers in endocrinology · 2024Review
- Exploring the Genetic Causes for Postnatal Growth Failure in Children Born Non-Small for Gestational Age.Journal of clinical medicine · 2023Article
- Analysis of children with familial short stature: who should be indicated for genetic testing?Endocrine connections · 2023Article
- Article
- Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature.Endocrine connections · 2022Article
- Novel Insights Into the Genetic Causes of Short Stature in Children.TouchREVIEWS in endocrinology · 2022Review
- CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans.Molecular genetics & genomic medicine · 2021Article
- Focused Revision: ACMG practice resource: Genetic evaluation of short stature.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Definition and prevalence of familial short stature.Italian journal of pediatrics · 2021Article
- Retrospective Diagnosis of a NovelFrontiers in genetics · 2021Article
- X-linked mental retardation and severe short stature with a novel mutation of theClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Short stature is a common feature, and frequently remains without a specific diagnosis after conventional clinical and laboratorial evaluation. Longitudinal growth is mainly determined by genetic factors, and hundreds of common variants have been associated to height variability among healthy individuals. Although isolated short stature may be caused by the combination of variants, with a deleterious impact on the growth of individuals with polygenic inheritance, recent studies have pointed out some monogenic defects as the cause of the growth disorder observed in nonsyndromic children. The majority of these defects are in genes related to the growth plate cartilage and in the growth hormone (GH) - insulin-like growth factor 1 (IGF-1) axis. Affected patients usually present the mildest spectrum of some forms of skeletal dysplasia, or subtle abnormalities of laboratory tests, suggesting hormonal resistance or insensibility. The lack of specific characteristics, however, does not allow formulation of a definitive diagnosis without the use of broad genetic studies. Thus, molecular genetic studies including panels of genes or exome analysis will become essential in investigating and identifying the causes of isolated short stature in children, with a crucial impact on treatment and follow-up.
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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.