Associated Papers
Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort.
Turkyilmaz A et al.
Clinical Genetics, 2025
Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings.
Khalilov D et al.
Neurocase, 2022
Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures.
Spedicati B et al.
Genes, 2022
HACE1, GLRX5, and ELP2 gene variant cause spastic paraplegies.
Sager G et al.
Acta Neurologica Belgica, 2022
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Sallevelt SCEH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype.
Kojic M et al.
Nature Communications, 2021
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
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