ReviewAnnual review of genomics and human genetics2015
Advances in Skeletal Dysplasia Genetics.
Review in Annual review of genomics and human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 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
40 citing papers in PubMed.
- Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing.BioMed research international · 2019Trial
- In Vivo Base Editing Partially Rescues Bone Dysplasia in a Mouse Model of Hutchinson-Gilford Progeria Syndrome.Aging cell · 2026Article
- Article
- Gut microbiota-mediated regulation of skeletal development: A review of mechanistic analysis and interventional strategies.Journal of advanced research · 2026Review
- Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms.bioRxiv : the preprint server for biology · 2026Article
- Deciduous pulp stem cell-derived extracellular vesicles stimulate the proliferation of cartilage progenitor cells via extracellular signal-regulated protein kinase 1/2 activation.Scientific reports · 2026Article
- Single-cell analysis of human fibrous dysplasia bone reveals a fibrotic transcriptome and GNAS variants in endothelial, perivascular, and stromal cells.American journal of human genetics · 2025Article
- Genotype-Phenotype Correlation Insights in a Rare Case Presenting with Multiple Osteodysplastic Syndromes.Genes · 2025Article
- Genetic skeletal disorders: phenotypic-genotypic characteristics and RhGH therapy responses of a pediatric cohort.Scientific reports · 2025Article
- Novel Splice Variant in theDiagnostics (Basel, Switzerland) · 2025Article
- Case Report: Constraint led strength and conditioning for Paralympic throwers with skeletal dysplasia.Frontiers in sports and active living · 2025Article
- Unraveling the complexity of skeletal dysplasias in the national health system.Frontiers in endocrinology · 2025Article
- Molecular analysis of 31 cases with fetal skeletal dysplasia.Journal of perinatal medicine · 2024Article
- Synergistic effects of biological stimuli and flexion induce microcavities promote hypertrophy and inhibit chondrogenesis during in vitro culture of human mesenchymal stem cell aggregates.Biotechnology journal · 2024Article
- Article
- The health-care utilization and economic burden in patients with genetic skeletal disorders.Orphanet journal of rare diseases · 2024Article
- Growth disorders caused by variants in epigenetic regulators: progress and prospects.Frontiers in endocrinology · 2024Review
- Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.Nature communications · 2023Article
- Zebrafish crocc2 mutants exhibit divergent craniofacial shape, misregulated variability, and aberrant cartilage morphogenesis.Developmental dynamics : an official publication of the American Association of Anatomists · 2023Article
- Accuracy of Multimodality Fetal Imaging (US, MRI, and CT) for Congenital Musculoskeletal Anomalies.Children (Basel, Switzerland) · 2023Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
Skeletal dysplasias result from disruptions in normal skeletal growth and development and are a major contributor to severe short stature. They occur in approximately 1/5,000 births, and some are lethal. Since the most recent publication of the Nosology and Classification of Genetic Skeletal Disorders, genetic causes of 56 skeletal disorders have been uncovered. This remarkable rate of discovery is largely due to the expanded use of high-throughput genomic technologies. In this review, we discuss these recent discoveries and our understanding of the molecular mechanisms behind these skeletal dysplasia phenotypes. We also cover potential therapies, unusual genetic mechanisms, and novel skeletal syndromes both with and without known genetic causes. The acceleration of skeletal dysplasia genetics is truly spectacular, and these advances hold great promise for diagnostics, risk prediction, and therapeutic design.
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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.