Associated Papers
Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2 -Related Disorders to a Syndromic Multiple Tumor Phenotype.
Lucain M et al.
American Journal of Medical Genetics. Part A, 2025
Cellular and molecular functions of SETD2 in the central nervous system.
Mitchell B et al.
Journal of Cell Science, 2023
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.
Parra A et al.
Genes, 2023
Clinical and genetic features of luscan-lumish syndrome associated with a novel de novo variant of SETD2 gene: Case report and literature review.
Zhang Y et al.
Frontiers in Genetics, 2023
A novel SETD2 variant causing global development delay without overgrowth in a Chinese 3-year-old boy.
Wu Y et al.
Frontiers in Genetics, 2023
Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.
Lumish HS et al.
Journal of Autism and Developmental Disorders, 2015
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