Novel Genetic and Phenotypic Expansion in Ameliorated <i>PUF60</i>-Related Disorders

Novel Genetic and Phenotypic Expansion in Ameliorated <i>PUF60</i>-Related Disorders

Heterozygous variants in the Poly(U) Binding Splicing Factor 60kDa gene (<i>PUF60</i>) have been associated with Verheij syndrome, which has the key features of coloboma, short stature, skeletal abnormalities, developmental delay, palatal abnormalities, and congenital heart and kidney de...

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Bibliographic Details
Main Authors: Emily Baum, Wenming Huang, Catherine Vincent-Delorme, Perrine Brunelle, Adam Antebi, Hormos Salimi Dafsari
Format: Article
Language:English
Published: MDPI AG 2024-02-01
Series:International Journal of Molecular Sciences
Subjects:
<i>PUF60</i>
neurodevelopmental disorders
Verheij syndrome
immunological disorders
Online Access:https://www.mdpi.com/1422-0067/25/4/2053

Internet

https://www.mdpi.com/1422-0067/25/4/2053

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