Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome

ConclusionOur study reported the fourth case of JS patients withCEP104 mutations, which expands the mutation spectrum ofCEP104 and elucidates the clinical heterogeneity of JS.

Source: Molecular Genetics & Genomic Medicine - October 17, 2019 Category: Genetics & Stem Cells Authors: Minna Luo, Li Cao, Zongfu Cao, Siyu Ma, Yue Shen, Di Yang, Chao Lu, Zaisheng Lin, Zhimin Liu, Yufei Yu, Ruikun Cai, Cuixia Chen, Huafang Gao, Xueyan Wang, Muqing Cao, Xu Ma Tags: ORIGINAL ARTICLE Source Type: research