ArticleJournal of medical genetics1997
Radial aplasia and chromosome 22q11 deletion.
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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
7 citing papers in PubMed.
- More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated.Molecular syndromology · 2013Article
- 13q13.1-q13.2 deletion in tetralogy of Fallot: clinical report and a literature review.International journal of cardiology · 2011Review
- Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice.The Journal of clinical investigation · 2009Article
- Ocular findings in children with a microdeletion in chromosome 22q11.2.European journal of pediatrics · 2008Article
- Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome).Images in paediatric cardiology · 2005Article
- Thrombocytopenia-absent radius syndrome: a clinical genetic study.Journal of medical genetics · 2002Article
- Microdeletion 22q11 and oesophageal atresia.Journal of medical genetics · 1999Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report on a neonate with deletion 22q11 (del22q11) presenting with facial dysmorphism, ocular coloboma, congenital heart defect, urogenital malformations, and unilateral radial aplasia. This malformation complex includes features frequently occurring in velocardiofacial syndrome as well as findings described in the CHARGE and VACTERL associations. To our knowledge, the present case is the first report of radial aplasia in del22q11. This observation further supports and extends the clinical variability of del22q11.
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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.