ArticleJournal of medical genetics2023
Heterozygous pathogenic variants involving
Article in Journal of medical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 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
6 citing papers in PubMed, 7 citations in OpenAlex.
- Diagnosis, treatment, and management recommendations for cleidocranial dysplasia: A modified Delphi panel.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Article
- Youthfulness of marrow AdipoqBone research · 2026Article
- Deep-Intronic Variant in RUNX2 Causing Pseudo-Exon Inclusion in a Family With Cleidocranial Dysplasia.Clinical genetics · 2026Article
- Article
- A Cryptic CBFB Deletion-Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia.Clinical genetics · 2025Article
- Unraveling the complexity of skeletal dysplasias in the national health system.Frontiers in endocrinology · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors at 8 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCleidocranial dysplasia (CCD) is a rare skeletal dysplasia with significant clinical variability. Patients with CCD typically present with delayed closure of fontanels and cranial sutures, dental anomalies, clavicular hypoplasia or aplasia and short stature. Runt-related transcription factor 2 (
methodsThe cohort consists of eight subjects from five unrelated families partially identified through GeneMatcher. Exome or genome sequencing was applied and in two subjects the effect of the variant was investigated at RNA level.
resultsIn each subject a heterozygous pathogenic variant in
conclusionWe confirm the previously suggested locus heterogeneity for CCD by identifying five pathogenic variants in
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.