Growth Concerns in Coffin–Lowry Syndrome: A Case Report and Literature Review
Author:
Funder
National Natural Science Foundation of China
Publisher
Frontiers Media SA
Subject
Pediatrics, Perinatology and Child Health
Reference23 articles.
1. Ras and Rap signaling in synaptic plasticity and mental disorders;Stornetta;Neuroscientist,2011
2. Four novel RSK2 mutations in females with Coffin-Lowry syndrome;Jurkiewicz;Eur J Med Genet.,2010
3. Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS);Abidi;Eur J Hum Genet.,1999
4. Role and regulation of 90 kDa ribosomal S6 kinase (RSK) in signal transduction;Frodin;Mol Cell Endocrinol.,1999
5. Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome;Delaunoy;Clin Genet.,2006
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2. The ribosomal S6 kinase 2 (RSK2)–SPRED2 complex regulates the phosphorylation of RSK substrates and MAPK signaling;Journal of Biological Chemistry;2023-06
3. Case Report: Chinese female patients with a heterozygous pathogenic RPS6KA3 gene variant c.898C>T and distal 22q11.2 microdeletion;Frontiers in Genetics;2022-08-15
4. Coffin-Lowry Syndrome Induced by RPS6KA3 Gene Variation in China: A Case Report in Twins;Medicina;2022-07-20
5. Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome;Journal of Investigative Medicine High Impact Case Reports;2022-01
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