Article
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
Human mutation - 1 Dec 2022
Simsek-Kiper Pelin Ozlem, Jacob Prince, Upadhyai Priyanka, Taşkıran Zihni Ekim, Guleria Vishal S, Karaosmanoglu Beren, Imren Gozde, Gocmen Rahsan, Bhavani Gandham S, Kausthubham Neethukrishna, Shah Hitesh, Utine Gulen Eda, Boduroglu Koray, Girisha Katta M
Abstract excerpt
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 reported to have this condition to date. The molecular pathogenesis related to primary ciliogenesis has not been enumerated in subjects with SEMDJL3. In this...
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