Biallelic Loss-of-function Variants in EXOC6B Are Associated with Impaired Primary Ciliogenesis and Cause Spondylo-Epi-metaphyseal Dysplasia with Joint Laxity Type 3

Pelin Simsek-Kiper,Prince Jacob,Priyanka Upadhyai,Ekim Taskiran,Vishal Singh Guleria,Beren Karaosmanoglu,Gozde Imren,Rahsan Gocmen,Gandham SriLakshmi Bhavani,Neethukrishna Kausthubham,Hitesh Shah,Gulen Eda Utine,Koray Boduroglu,Katta Girisha

EUROPEAN JOURNAL OF HUMAN GENETICS（2023）

Cited 5|Views21

Key words

central nervous system anomalies,ciliopathy,EXOC6B,exocyst,joint dislocation,primary cilia,spondylo-epi-metaphyseal dysplasia with joint laxity type 3

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