De Novo Missense Variants in CHTF18: The Potential to Expand the Clinical Spectrum of Cohesinopathies
{{output}}
Cohesin is a multiprotein complex that maintains chromosome integrity during cell division. Disruptions in cohesin or its regulators, including CHTF18, can lead to neurodevelopmental and congenital disorders known as cohesinopathies. CHTF18 participates in coh... ...
