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

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European journal of human genetics - ISSN 1018-4813- (2025) p.
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Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome

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