Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings

BACKGROUND: Joubert syndrome (JS) is a rare genetic disorder, which can be defined by brain stem malformation, cerebellar vermis hypoplasia, and consequent “molar tooth sign” (MTS). JS always shares variety of phenotypes in development defects. With the development of next-generation sequencing, doz...

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Detalles Bibliográficos
Autores principales: Wang, Xiang, Zhang, Zhu, Zhang, Xueguang, Shen, Ying, Liu, Hongqian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7325267/
https://www.ncbi.nlm.nih.gov/pubmed/32600475
http://dx.doi.org/10.1186/s40246-020-00274-4

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