ArticleHuman genome variation2019
Discordant phenotype caused by
Article in Human genome variation, 2019. 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature.Case reports in genetics · 2026Article
- Diverse Clinical Phenotypes ofGenes · 2023Review
- Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders.Molecular genetics & genomic medicine · 2022Article
- A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.Italian journal of pediatrics · 2022Article
- Clinical Spectrum ofInternational journal of molecular sciences · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
With the advent of next-generation sequencing (NGS), a blended phenotype has been shown to be caused by multilocus molecular diagnosis. Here, we present siblings of neurofibromatosis type 1 (NF1) with discordant phenotypes. Further genetic investigation revealed that the younger sister had trisomy 8 mosaicism with a low ratio and a known pathogenic mutation in the
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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.