A NovelSHOC2Variant in Rasopathy
Author:
Affiliation:
1. Division of Medical Genetics and Genomic Medicine; Vanderbilt University; Nashville Tennessee
2. Department of Molecular and Cellular Biochemistry; University of Kentucky; Lexington Kentucky
Funder
National Institutes of Health
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference21 articles.
1. Cardio-facio-cutaneous syndrome: does genotype predict phenotype? American journal of medical genetics;Allanson;Semin Med Gen C,2011
2. The face of Noonan syndrome: Does phenotype predict genotype;Allanson;Am J Med Genet A,2010
3. Towards a comprehensive analysis of the protein phosphatase 1 interactome in Drosophila;Bennett;J Mol Biol,2006
4. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair;Cordeddu;Nat Genet,2009
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2. Structural insights into the role of SHOC2‐MRAS‐PP1C complex in RAF activation;The FEBS Journal;2023-04-26
3. Structural Advancement in Shoc2‐MAPK Signaling Pathways in the Treatment of Cancer and Other Diseases;ChemistrySelect;2022-12-21
4. Helsmoortel–Van der Aa Syndrome—Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies;Genes;2022-12-15
5. Case report: A de novo RASopathy-causing SHOC2 variant in a Chinese girl with noonan syndrome-like with loose anagen hair;Frontiers in Genetics;2022-12-09
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