Identification of a New Mutation in <i>RSK2</i>, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes

Identification of a New Mutation in <i>RSK2</i>, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes

Background: Coffin–Lowry syndrome (CLS) is a syndromic form of X-linked intellectual disability, in which specific associated facial, hand, and skeletal abnormalities are diagnostic features. Methods: In the present study, an unreported missense genetic variant of the ribosomal S6 kinase 2 (<i>...

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Bibliographic Details
Main Authors: Mariateresa Di Stazio, Stefania Bigoni, Nicola Iuso, Josef Vuch, Rita Selvatici, Sheila Ulivi, Pio Adamo d’Adamo
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Brain Sciences
Subjects:
<i>RSK2</i> gene
Coffin–Lowry syndrome
intellectual disability
kinase assay
functional assay
Online Access:https://www.mdpi.com/2076-3425/11/8/1105

Internet

https://www.mdpi.com/2076-3425/11/8/1105

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