[HTML][HTML] Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes
TZ Draksler, A Bouman, A Guček, E Novak… - European Journal of …, 2024 - Elsevier
Kleefstra syndrome (KLEFS1) is a rare genetic neurodevelopmental disorder affecting
multiple body systems. It continues to be under-researched, and its prevalence remains …
multiple body systems. It continues to be under-researched, and its prevalence remains …
Novel Phenotypes and Genotype–Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome
ZJ Frazier, S Kilic, H Osika, A Mo, M Quinn… - Clinical …, 2025 - Wiley Online Library
Kleefstra syndrome (KLEFS) is a genetic neurodevelopmental disorder caused by
haploinsufficiency of EHMT1. The full spectrum of clinical features and genotype–phenotype …
haploinsufficiency of EHMT1. The full spectrum of clinical features and genotype–phenotype …