Whole exome sequencing facilitated the diagnosis in four Chinese pediatric cases of Joubert syndrome related disorders

CONCLUSIONS: Our findings expanded the mutation spectrum of Joubert syndrome related disorders, and provided solid evidence to the affected families for further genetic counseling and pregnancy guidance.PMID:35958498 | PMC:PMC9360900

Source: American Journal of Translational Research - August 12, 2022 Category: Research Authors: Jing Zhang Lihui Wang Wenqi Chen Jun Duan Yanxin Meng Huafang Yang Qing Guo Source Type: research