Identification of a New Mutation in RSK2, 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 (RSK2) ge...

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Detalles Bibliográficos
Autores principales: Di Stazio, Mariateresa, Bigoni, Stefania, Iuso, Nicola, Vuch, Josef, Selvatici, Rita, Ulivi, Sheila, d’Adamo, Pio Adamo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8394959/
https://www.ncbi.nlm.nih.gov/pubmed/34439726
http://dx.doi.org/10.3390/brainsci11081105

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8394959/
https://www.ncbi.nlm.nih.gov/pubmed/34439726
http://dx.doi.org/10.3390/brainsci11081105

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