Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

PurposePathogenic variants in neuroblastoma-amplified sequence (NBAS) cause an autosomal recessive disorder with a wide range of symptoms affecting liver, skeletal system, and brain, among others. There is a continuously growing number of patients but a lack of systematic and quantitative analysis.MethodsIndividuals with biallelic variants in NBAS were recruited within an international, multicenter study, including novel and previously published...