Protein elongation variant of PUF60 : Milder phenotypic end of the Verheij syndrome
Author:
Affiliation:
1. Center for Medical Genetics Keio University School of Medicine Tokyo Japan
2. Department of Pediatrics Keio University School of Medicine Tokyo Japan
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61816
Reference19 articles.
1. Clinical characterization of a PUF60 variant in a patient with Dubowitz-like syndrome
2. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
3. Dimerization and Protein Binding Specificity of the U2AF Homology Motif of the Splicing Factor Puf60
4. SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant
5. Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
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1. Identification of a de novo PUF60 variant associated with craniofacial microsomia;American Journal of Medical Genetics Part A;2024-04-22
2. Identification of a novel de novo PUF60 variant causing Verheij syndrome in a fetus;Gene;2024-03
3. PUF60 loss‐of‐function with normal cognition should be considered in the differential diagnosis of Klippel–Feil syndrome;American Journal of Medical Genetics Part A;2024-01-31
4. RNA binding proteins in cardiovascular development and disease;Current Topics in Developmental Biology;2024
5. PUF60‐related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants;American Journal of Medical Genetics Part A;2023-06-11
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