Novel <i>STAG1</i> Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder

Novel <i>STAG1</i> Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder

The cohesin complex is a large evolutionary conserved functional unit which plays an essential role in DNA repair and replication, chromosome segregation and gene expression. It consists of four core proteins, SMC1A, SMC3, RAD21, and STAG1/2, and by proteins regulating the interaction between the co...

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Bibliographic Details
Main Authors: Ester Di Muro, Pietro Palumbo, Mario Benvenuto, Maria Accadia, Marilena Carmela Di Giacomo, Sergio Manieri, Rosaria Abate, Maria Tagliente, Stefano Castellana, Tommaso Mazza, Massimo Carella, Orazio Palumbo
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:Genes
Subjects:
<i>STAG1</i>
whole exome sequencing
neurodevelopmental disorders
Online Access:https://www.mdpi.com/2073-4425/12/8/1116

Internet

https://www.mdpi.com/2073-4425/12/8/1116

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