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
De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review.
Siano MA et al.
Pediatric Reports, 2022
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