ReviewJournal of developmental biology2022
Craniofacial Phenotypes and Genetics of DiGeorge Syndrome.
Review in Journal of developmental biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 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
21 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Mandibular trabecular microarchitecture as a radiographic biomarker of bone health in children with 22q11.2 deletion syndrome.BMC pediatrics · 2026Article
- Unveiling the complexities of hypoparathyroidism: a comprehensive review of clinical manifestations, diagnosis, and novel therapies.Journal of endocrinological investigation · 2026Review
- 22q11.2 Deletion Syndrome, Oral-Maxillo-Facial Manifestations and Cognitive Functioning: Three Illustrative Case Reports.Children (Basel, Switzerland) · 2026Article
- Clinical and genetic characterization of patients with Digeorge syndrome: a single-center, first report from Sudan.BMC pediatrics · 2026Article
- Pulmonary Manifestations of Inborn Errors of Immunity: Diagnostic and Therapeutic Insights.Life (Basel, Switzerland) · 2025Review
- Chronic inflammatory arthritis in 22q11.2 deletion (DiGeorge) syndrome: a multicentric study.Orphanet journal of rare diseases · 2025Article
- Dissecting the Genetic Contribution of Tooth Agenesis.International journal of molecular sciences · 2025Review
- Article
- The Role of miRNA Expression in Congenital Heart Disease: Insights into the Mechanisms and Biomarker Potential.Children (Basel, Switzerland) · 2025Review
- Inactivation of the SLC25A1 gene during embryogenesis induces a unique senescence program controlled by p53.Cell death and differentiation · 2025Article
- Parent-of-origin testing of prenatal copy number variations: a retrospective study of 167 family cases.Scientific reports · 2025Article
- Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome.Nature communications · 2024Article
- The Co-Occurrence of 22q11.2 Deletion Syndrome and Epithelial Basement Membrane Dystrophy: A Case Report and Review of the Literature.Life (Basel, Switzerland) · 2024Review
- Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors.Genes · 2024Review
- Article
- Establishment of the Myeloid TBX-Code Reveals Aberrant Expression of T-Box Gene TBX1 in Chronic Myeloid Leukemia.International journal of molecular sciences · 2023Article
- Maternal Pre-Existing Diabetes: A Non-Inherited Risk Factor for Congenital Cardiopathies.International journal of molecular sciences · 2023Review
- Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.International journal of molecular sciences · 2023Review
- Scientific Papers by Developmental Biologists in Japan.Journal of developmental biology · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
Abstract
The 22q11.2 deletion is one of the most common genetic microdeletions, affecting approximately 1 in 4000 live births in humans. A 1.5 to 2.5 Mb hemizygous deletion of chromosome 22q11.2 causes DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). DGS/VCFS are associated with prevalent cardiac malformations, thymic and parathyroid hypoplasia, and craniofacial defects. Patients with DGS/VCFS manifest craniofacial anomalies involving the cranium, cranial base, jaws, pharyngeal muscles, ear-nose-throat, palate, teeth, and cervical spine. Most craniofacial phenotypes of DGS/VCFS are caused by proximal 1.5 Mb microdeletions, resulting in a hemizygosity of coding genes, microRNAs, and long noncoding RNAs.
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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.