Kleefstra syndrome in three adult patients: Further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
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1. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes;The American Journal of Human Genetics;2024-08
2. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome;The American Journal of Human Genetics;2024-08
3. Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals;Journal of Medical Genetics;2024-01-30
4. Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link;Europace;2023-12-28
5. To speak may draw on epigenetic writing and reading: Unravelling the complexity of speech and language outcomes across chromatin-related neurodevelopmental disorders;Neuroscience & Biobehavioral Reviews;2023-09
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