ArticleBMC medical genomics2018
Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature.
Article in BMC medical genomics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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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.
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Who cites it
9 citing papers in PubMed, 21 citations in OpenAlex.
- Vitamin BNature communications · 2026Article
- The Function of Poly (U) Binding Splicing Factor 60 (PUF60) in Disease Regulation.Anti-cancer agents in medicinal chemistry · 2026Review
- Vitamin BResearch square · 2025Article
- A Prenatal Diagnosis of Verheij Syndrome in a Fetus Harboring a de novoClinical case reports · 2025Article
- A Case Report of Verheij Syndrome.Cureus · 2024Article
- RNA binding proteins in cardiovascular development and disease.Current topics in developmental biology · 2024Article
- Early loss of Scribble affects cortical development, interhemispheric connectivity and psychomotor activity.Scientific reports · 2021Article
- Article
- Identification of a New Variant of PUF60 Gene: Case Presentation and Literature Review.Cancer diagnosis & prognosisArticle
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundVerheij syndrome is a rare microdeletion syndrome of chromosome 8q24.3 that harbors PUF60, SCRIB, and NRBP2 genes. Subsequently, loss of function mutations in PUF60 have been found in children with clinical features significantly overlapping with Verheij. CASE PRESENTATION: Here we present the first Chinese Han patient with a de novo nonsense variant (c.1357C > T, p.Gln453*) in PUF60 by clinical whole exome sequencing. The 5-year-old boy presents with dysmorphic facial features, intellectual disability, and growth retardation but without apparent cardiac, renal, ocular, and spinal anomalies.
conclusionsOur finding contributes to the understanding of the genotype and phenotype in PUF60 related disorder.
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