A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome

Source
European journal of human genetics - ISSN 1018-4813- (2025) p.
Author(s)

Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome

Source
European journal of human genetics - ISSN 1018-4813-32 (2024) p. 630-638
Author(s)