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

BACKGROUND: Joubert syndrome (JS, OMIM: 213300) is a recessive developmental disorder characterized by cerebellar vermis hypoplasia and a distinctive mid‐hindbrain malformation called the “molar tooth sign” on axial magnetic resonance imaging. To date, more than 35 ciliary genes have been identified...

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Dades bibliogràfiques
Publicat a:Mol Genet Genomic Med
Autors principals: Luo, Minna, Cao, Li, Cao, Zongfu, Ma, Siyu, Shen, Yue, Yang, Di, Lu, Chao, Lin, Zaisheng, Liu, Zhimin, Yu, Yufei, Cai, Ruikun, Chen, Cuixia, Gao, Huafang, Wang, Xueyan, Cao, Muqing, Ma, Xu
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2019
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6900356/
https://ncbi.nlm.nih.gov/pubmed/31625690
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1004
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