Biallelic loss‐of‐function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity type 3
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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
Exploring and expanding the phenotype and genotype diversity in seven Chinese families with spondylo-epi-metaphyseal dysplasia
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DOI: 10.3389/fgene.2022.960504
Abstract: Spondylo-epi-metaphyseal dysplasia (SEMD) is a heterogeneous group of disorders with different modes of inheritance and is characterized by disproportionate or proportionate short stature. To date, more than 30 disease-causing genes have been identified, and different… read more here.
Keywords: spondylo epi; phenotype; phenotype genotype; metaphyseal dysplasia ... See more keywords