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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
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 |