Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.
Minna LuoLi CaoZongfu CaoSiyu MaYue ShenDi YangChao LuZaisheng LinZhimin LiuYufei YuRuikun CaiCuixia ChenHuafang GaoXueyan WangMuqing CaoXu MaPublished in: Molecular genetics & genomic medicine (2019)
Our study reported the fourth case of JS patients with CEP104 mutations, which expands the mutation spectrum of CEP104 and elucidates the clinical heterogeneity of JS.
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