Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17

BACKGROUND: CWF19L1 is responsible for spinocerebellar ataxia, autosomal recessive 17, which presents with cerebellar ataxia, and atrophy. Here, we report novel compound heterozygous variants of CWF19L1 in a Chinese family with progressive ataxia and mental retardation of unknown etiology by analyzi...

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Detalles Bibliográficos
Autores principales: Ruan, Miaohua, Wang, Hongwei, Zhu, Mianmian, Sun, Rongyue, Shi, Jiamin, Wang, Qiu, Chen, Yuan, Wang, Yihong, Wang, Dan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757004/
https://www.ncbi.nlm.nih.gov/pubmed/36357319
http://dx.doi.org/10.1002/jcla.24767

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