PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference22 articles.
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2. Advances in understanding – genetic basis of intellectual disability;Chiurazzi;F1000Research,2016
3. SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant;Dauber;Am. J. Hum. Genet.,2013
4. Developmental Disorders, Prevalence and architecture of de novo mutations in developmental disorders;Deciphering;Nature,2017
5. Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature;El Chehadeh;Eur. J. Hum. Genet.:EJHG,2016
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1. Identification of a novel de novo PUF60 variant causing Verheij syndrome in a fetus;Gene;2024-03
2. Rare CNVs and Known Genes Linked to Macrocephaly: Review of Genomic Loci and Promising Candidate Genes;Genes;2022-12-04
3. The diverse pleiotropic effects of spliceosomal protein PUF60 : A case series of Verheij syndrome;American Journal of Medical Genetics Part A;2022-08-17
4. Evolutionarily conserved regulation of immunity by the splicing factor RNP-6/PUF60;eLife;2020-06-15
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