ArticleJournal of applied genetics2007
A de novo interstitial 6q deletion in a boy with a split hand malformation.
Article in Journal of applied genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 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.
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Who cites it
5 citing papers in PubMed, 12 citations in OpenAlex.
- PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation.Disease models & mechanisms · 2023Article
- Case report: A newFrontiers in genetics · 2023Article
- Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia.Clinical case reports · 2017Article
- Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.European journal of human genetics : EJHG · 2015Article
- Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.Neurogenetics · 2012Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report on a de novo interstitial deletion of (6)(q15q22.2) in a 5-year-old boy with developmental delay, microcephaly, facial dysmorphism, cryptorchidism, congenital heart defect, and split-hand malformation. Previous reports and this patient suggest that 6q21 may contain a gene or genes related either directly or indirectly to limb development.
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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.