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>...
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: | |
Online Access: | https://www.mdpi.com/2076-3425/11/8/1105 |
Similar Items
-
An unexpected presentation of very severe hypertriglyceridemia in a boy with Coffin-Lowry syndrome: a case report
by: Sue Lyn Tan, et al.
Published: (2023-10-01) -
First female Korean child with Coffin-Lowry syndrome: a novel variant in diagnosed by exome sequencing and a literature review
by: Ari Song, et al.
Published: (2022-01-01) -
Coffin-Lowry Syndrome Induced by <i>RPS6KA3</i> Gene Variation in China: A Case Report in Twins
by: Huiying Jin, et al.
Published: (2022-07-01) -
RSK Isoforms in Acute Myeloid Leukemia
by: Minyoung Youn, et al.
Published: (2021-06-01) -
Identifying requirements for RSK2 specific inhibitors
by: Eric B. Wright, et al.
Published: (2021-01-01)