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

• मुख्य लेखकों: Wei Li (लेखक), Xin Fan (लेखक), Yue Zhang (लेखक), Limei Huang (लेखक), Tingting Jiang (लेखक), Zailong Qin (लेखक), Jiasun Su (लेखक), Jingrong Luo (लेखक), Shang Yi (लेखक), Shujie Zhang (लेखक), Yiping Shen (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2020-05-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...