A very early diagnosis of Alstrӧm syndrome by next generation sequencing
利用下一代测序技术对阿尔斯特罗姆综合征进行早期诊断
期刊:BMC Medical Genetics
影响因子:
doi:10.1186/s12881-020-01110-1
Gatticchi, Leonardo; Miertus, Jan; Maltese, Paolo Enrico; Bressan, Simone; De Antoni, Luca; Podracká, Ludmila; Piteková, Lucia; Rísová, Vanda; Mällo, Mari; Jaakson, Kaie; Joost, Kairit; Colombo, Leonardo; Bertelli, Matteo