Pathogenic UBA1 variants define a subset of relapsing polychondritis
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DOI: 10.1038/s41584-021-00624-z
Abstract: Two new studies have identified mutations in UBA1 associated with the newly identified condition VEXAS syndrome in cohorts of patients with relapsing polychondritis, supporting the concept that relapsing polychondritis is more than one disease. read more here.
Keywords: pathogenic uba1; polychondritis; variants define; define subset ... See more keywords
Familial SYNGAP1 variants define the boundaries of a complex neurodevelopmental disorder with epilepsy
Sign Up to like & getrecommendations! Published in 2025 at "Epilepsia"
DOI: 10.1111/epi.18469
Abstract: SYNGAP1‐related disorders are common neurodevelopmental conditions characterized by autism spectrum disorder, developmental delay, intellectual disability, and a range of generalized seizure types. Disease‐causing variants in SYNGAP1 typically occur de novo. This study aims to characterize… read more here.
Keywords: variants define; disorder; familial syngap1; syngap1 ... See more keywords