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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Enregistré dans:
Détails bibliographiques
Publié dans:BMC Med Genet
Auteurs principaux: Li, Wei, Fan, Xin, Zhang, Yue, Huang, Limei, Jiang, Tingting, Qin, Zailong, Su, Jiasun, Luo, Jingrong, Yi, Shang, Zhang, Shujie, Shen, Yiping
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2020
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7216669/
https://ncbi.nlm.nih.gov/pubmed/32393339
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01039-5
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