Article
Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes.
Pediatric neurology - 1 Nov 2024
Siegert Sandy, Grisold Anna, Pal-Handl Katharina, Lilja Stephanie, Kepa Sylvia, Silvaieh Sara, Laccone Franco, Wiest Gerald, Pogledic Ivana, Schmook Maria T, Boltshauser Eugen, Schmidt Wolfgang M, Krenn Martin
Abstract excerpt
BACKGROUND: Biallelic SUFU variants have originally been linked to Joubert syndrome, comprising cerebellar abnormalities, dysmorphism, and polydactyly. In contrast, heterozygous truncating variants have recently been associated with developmental delay and ocular motor apraxia, but only a limited number of patients have been reported. Here, we aim to delineate further the mild end of the phenotypic spectrum...
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