A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5

BACKGROUND: Neuronal ceroid lipofuscinosis type 5 (CLN5) is a rare form of neuronal ceroid lipofuscinoses (NCLs) which are a group of inherited neurodegenerative diseases characterized by progressive intellectual and motor deterioration, visual failure, seizures, behavioral changes and premature dea...

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Detalles Bibliográficos
Autores principales: Li, Wei, Fan, Xin, Zhang, Yue, Huang, Limei, Jiang, Tingting, Qin, Zailong, Su, Jiasun, Luo, Jingrong, Yi, Shang, Zhang, Shujie, Shen, Yiping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216669/
https://www.ncbi.nlm.nih.gov/pubmed/32393339
http://dx.doi.org/10.1186/s12881-020-01039-5

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