Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report

• Asıl Yazarlar: Francesca Peluso (Yazar), Viviana Palazzo (Yazar), Giuseppe Indolfi (Yazar), Francesco Mari (Yazar), Roberta Pasqualetti (Yazar), Elena Procopio (Yazar), Claudia Nesti (Yazar), Renzo Guerrini (Yazar), Filippo Santorelli (Yazar), Sabrina Giglio (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2021-01-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Abstract Background Mutations in lysyl-tRNA synthetase (KARS1), an enzyme that charges tRNA with the amino acid lysine in both the cytoplasm and mitochondria, have been associated thus far with autosomal recessive Charcot-Marie-Tooth type CMTRIB, hearing loss type DFNB89, and mitochondrial encephalo...