Associated Papers
Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome.
Ren R et al.
Bmc Medical Genomics, 2024
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Rots D et al.
American Journal of Human Genetics, 2024
A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2.
Whitford W et al.
Molecular Genetics & Genomic Medicine, 2024
Novel germline variants in KMT2C in Chinese patients with Kleefstra syndrome-2.
Yang Q et al.
Frontiers in Neurology, 2024
38356881 (PubMed )
Supplement: Table_1.xlsx › Table_S1
Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments.
Zardetto B et al.
Human Mutation, 2024
De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review.
Siano MA et al.
Pediatric Reports, 2022
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses.
Schoch K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
Koemans TS et al.
Plos Genetics, 2017
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