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Case Report: Varicella-zoster Encephalitis with Acute Retinal Necrosis and Oculomotor Nerve Palsy.
De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.
Rathmell, Jeffrey
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De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.
De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus. Hum Mol Genet. 2021 02 25; 29(24):3892-3899.
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PubMed
subject areas
Child
Child, Preschool
Elongation Factor 2 Kinase
Exome
Heterozygote
Humans
Hydrocephalus
Male
Mutation
Neurodevelopmental Disorders
Phenotype
authors with profiles
Christopher Gomez