TheCASKgene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference27 articles.
1. American Journal of Medical Genetics 01487299 10968628 2004
2. Deletion of CASK in mice is lethal and impairs synaptic function;Atasoy;Proc Natl Acad Sci USA,2007
3. X-inactivation profile reveals extensive variability in X-linked gene expression in females;Carrel;Nature,2005
4. Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes;Collins;Am J Med Genet,1992
5. X-inactivation and human disease: X-linked dominant male-lethal disorders;Franco;Curr Opin Genet Dev,2006
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5. A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review;Italian Journal of Pediatrics;2022-05-12
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