Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3
EXOC6B 中的双等位基因功能丧失变异与原发性纤毛发生受损有关，并导致 3 型关节松弛症的脊椎-上皮-干骺端发育不良
期刊:Human Mutation
影响因子:3.3
doi:10.1002/humu.24478
Pelin Ozlem Simsek-Kiper, Prince Jacob, Priyanka Upadhyai, Zihni Ekim Taşkıran, Vishal S Guleria, Beren Karaosmanoglu, Gozde Imren, Rahsan Gocmen, Gandham S Bhavani, Neethukrishna Kausthubham, Hitesh Shah, Gulen Eda Utine, Koray Boduroglu, Katta M Girisha
