Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.
Luo M, Cao L, Cao Z, Ma S, Shen Y, Yang D, Lu C, Lin Z, Liu Z, Yu Y, Cai R, Chen C, Gao H, Wang X, Cao M, Ma X.
Luo M, et al.
Mol Genet Genomic Med. 2019 Dec;7(12):e1004. doi: 10.1002/mgg3.1004. Epub 2019 Oct 18.
Mol Genet Genomic Med. 2019.
PMID: 31625690
Free PMC article.