ArticleJournal of medical genetics2020
Rare and
Article in Journal of medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- A thorough analysis of data on the correlation between COL9A1 polymorphisms and the susceptibility to congenital talipes equinovarus: a meta-analysis.Journal of orthopaedic surgery and research · 2024Pooled it
- Xp22.33 Duplication Encompassing PAR1 in a Male with Syndromic Neurodevelopmental Disorder and Tall Stature.Genes · 2026Article
- Phenotype Variations in a Family with Various Rearrangements in the Locus of theInternational journal of molecular sciences · 2026Article
- Unraveling the Clinical and Genetic Landscape of Talipes Equinovarus (Clubfoot).Molecular syndromology · 2026Review
- Linking shox/shox2 deficiency with fgfr3 gain-of-function and natriuretic peptides.Frontiers in endocrinology · 2026Article
- Genetics, epidemiology and management of clubfoot and related disorders.Genes & diseases · 2025Review
- Exome sequencing of 1190 non-syndromic clubfoot cases revealsJournal of medical genetics · 2024Article
- Incidence and prevalence of congenital clubfoot in Apulia: a regional model for future prospective national studies.Italian journal of pediatrics · 2023Review
- Pathogenic copy number variations are associated with foetal short femur length in a tertiary referral centre study.Journal of cellular and molecular medicine · 2023Article
- A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesis.JCI insight · 2022Article
- Diagnostic yield of exome sequencing in congenital vertical talus.European journal of medical genetics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
introductionCongenital clubfoot is a common birth defect that affects at least 0.1% of all births. Nearly 25% cases are familial and the remaining are sporadic in inheritance. Copy number variants (CNVs) involving transcriptional regulators of limb development, including
methodsExome sequence data from 816 unrelated clubfoot cases and 2645 in-house controls were analysed using coverage data to identify rare CNVs. The precise size and location of duplications were then determined using high-density Affymetrix Cytoscan chromosomal microarray (CMA). Segregation in families and
resultsChromosome Xp22.33 duplications involving
conclusionsMicroduplications of the pseudoautosomal chromosome Xp22.33 region (PAR1) containing
Indexed as
Identifiers
What OpenQuestion holds
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.