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

• Príomhchruthaitheoirí: Wei Li (Údar), Xin Fan (Údar), Yue Zhang (Údar), Limei Huang (Údar), Tingting Jiang (Údar), Zailong Qin (Údar), Jiasun Su (Údar), Jingrong Luo (Údar), Shang Yi (Údar), Shujie Zhang (Údar), Yiping Shen (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: BMC, 2020-05-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: Connect to this object online.

Abstract 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 prema...