Biallelic loss‐of‐function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity type 3
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24478
Abstract: Spondylo‐epi‐metaphyseal dysplasias with joint laxity, type 3 (SEMDJL3) is a genetic skeletal disorder characterized by multiple joint dislocations, caused by biallelic pathogenic variants in the EXOC6B gene. Only four individuals from two families have been… read more here.
Keywords: spondylo epi; primary ciliogenesis; joint laxity; epi metaphyseal ... See more keywords