ReviewCurrent opinion in pediatrics2018
New developments in the genetic diagnosis of short stature.
Review in Current opinion in pediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 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.
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Who cites it
31 citing papers in PubMed, 57 citations in OpenAlex.
- Analysis of Genetic Factors in a Family With Short Stature.Molecular genetics & genomic medicine · 2026Article
- Aggrecanopathy as an Underrecognized Cause of Idiopathic Short Stature: The Importance of Early Genetic Confirmation for Timely Diagnosis and Management-Case Reports and Literature Review.Diseases (Basel, Switzerland) · 2026Article
- Evaluation of Cytogenetic and Molecular Genetic Tests in Patients with Short Stature.Molecular syndromology · 2026Article
- Phenotype Variations in a Family with Various Rearrangements in the Locus of theInternational journal of molecular sciences · 2026Article
- Telomere-to-telomere genome assembly of a male pig provides insight into population structure and selection for body stature.Nature genetics · 2026Article
- Exploring genotype-phenotype correlation of a novel SHOX gene splicing variant: Langer mesomelic dysplasia or idiopathic short stature.Molecular biology reports · 2025Article
- Optimising diagnosis in children with short stature: an integrated clinical and NGS approach.Endocrine connections · 2025Article
- Diagnostic Challenges of Short Stature and Growth Hormone Insufficiency Across Different Genetic Etiologies.Biomedicines · 2025Review
- Short stature with brachydactyly caused by a novel mutation in theTranslational pediatrics · 2024Article
- Unravelling short stature in pediatrics: the crucial role of genetic perspective.Translational pediatrics · 2024Article
- Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.Orphanet journal of rare diseases · 2024Article
- Monogenic causes of familial short stature.Frontiers in endocrinology · 2024Review
- Molecular diagnosis of patients with syndromic short stature identified by trio whole-exome sequencing.Frontiers in genetics · 2024Article
- The Application of Optical Genome Mapping (OGM) in Severe Short Stature Caused by Duplication of 15q14q21.3.Genes · 2023Article
- New developments and therapies in pediatric endocrinology.European journal of pediatrics · 2023Article
- Case report: A novel heterozygous frameshift mutation ofFrontiers in genetics · 2023Article
- Clinical Features in Patients with Xq23 Microdeletion: A Case Report and Literature ReviewJournal of clinical research in pediatric endocrinology · 2022Article
- HeterozygousGenes · 2022Article
- Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH.Frontiers in endocrinology · 2022Article
- Molecular genetic analysis and growth hormone response in patients with syndromic short stature.BMC medical genomics · 2021Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
Abstract
purpose of reviewGenome-wide approaches including genome-wide association studies as well as exome and genome sequencing represent powerful new approaches that have improved our ability to identify genetic causes of human disorders. The purpose of this review is to describe recent advances in the genetic causes of short stature. RECENT
findingsIn addition to SHOX deficiency which is one of the most common causes of isolated short stature, PAPPA2, ACAN, NPPC, NPR2, PTPN11 (and other rasopathies), FBN1, IHH and BMP2 have been identified in isolated growth disorders with or without other mild skeletal findings. In addition, novel genetic causes of syndromic short stature have been discovered, including pathogenic variants in BRCA1, DONSON, AMMECR1, NFIX, SLC25A24, and FN1. SUMMARY: Isolated growth disorders are often monogenic. Specific genetic causes typically have specific biochemical and/or phenotype characteristics which are diagnostically helpful. Identification of additional subjects with a specific genetic cause of short stature often leads to a broadening of the known clinical spectrum for that condition. The identification of novel genetic causes of short stature has provided important insights into the underlying molecular mechanisms of growth failure.
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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.