Article
A Novel Neuroimaging Phenotype in the X-Linked Intellectual Disability with a Missense Mutation of CNKSR2 Gene.
Neurology India - 1 Jan 2000
Hosur Bharat, Sinha Rahul, Jain Narendra K, Muthanna Boverianda Aiyanna, Bansal Vandana, Singh Sonali, Kamila Gautam
Abstract excerpt
Background: Mental retardation, X-linked, syndromic, Houge type (MRXSHG) is a form of mental retardation characterized by intellectual disability, speech and language impairments, and early-onset seizures. It has been recently recorded in Online Mendelian Inheritance in Man (OMIM), and only 10 cases have been reported in the literature so far. Objective: To highlight the novel neuroimaging findings in the...
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