Associated Papers
Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings.
Khalilov D et al.
Neurocase, 2022
Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder.
Dogan M et al.
Molecular Biology Reports, 2021
A Novel ELP2 Compound Heterozygous Mutation in a Boy with Severe Intellectual Disability, Spastic Diplegia, Stereotypic Behavior and Review of the Current Literature.
Turkyilmaz A et al.
Molecular Syndromology, 2020
ELP2 is a novel gene implicated in neurodevelopmental disabilities.
Cohen JS et al.
American Journal of Medical Genetics. Part A, 2015
Genetics of recessive cognitive disorders.
Musante L et al.
Trends in Genetics : Tig, 2014
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Najmabadi H et al.
Nature, 2011
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