Article
Exploring the Cognitive and Behavioral Aspects of Shprintzen-Goldberg Syndrome; a Novel Cohort and Literature Review.
Clinical genetics - 1 Mar 2025
Sjøstrøm Emilie, Bruel Ange-Line, Philippe Christophe, Delanne Julian, Faivre Laurence, Menke Leonie A, Au P Y Billie, Cormick Jessica Jane, Moosa Shahida, Bayat Allan
Abstract excerpt
Shprintzen-Goldberg-syndrome (SGS) is caused by pathogenic exon 1 variants of SKI. Symptoms include dysmorphic features, skeletal and cardiovascular comorbidities, and cognitive and developmental impairments. We delineated the neurodevelopmental and behavioral features of SGS, as they are not well-documented. We collected physician-reported data of people with molecularly confirmed SGS through an international...
Topics
Join the communities discussing this publication.