Expanding the clinical phenotype associated with an ASXL1 pathogenic variant causing a novel neuromuscular disorder with neurodevelopmental features
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Background: Germline pathogenic variants in the Additional Sex Combs-Like 1 (ASXL1) gene are associated with the neurodevelopmental Bohring-Opitz syndrome and cancers like Wilms' tumours. Bohring-Opitz syndrome is a phenotypical... ...
