Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome
LAMA1基因突变的鉴定结束了漫长的诊断过程,并对疑似Joubert综合征患者的预后具有重要意义。
期刊:Brain Communications
影响因子:4.5
doi:10.1093/braincomms/fcab163
Powell, Laura; Olinger, Eric; Wedderburn, Sarah; Ramakumaran, Vijayalakshmi Salem; Kini, Usha; Clayton-Smith, Jill; Ramsden, Simon C; Rice, Sarah J; Barroso-Gil, Miguel; Wilson, Ian; Cowley, Lorraine; Johnson, Sally; Harris, Elizabeth; Montgomery, Tara; Bertoli, Marta; Boltshauser, Eugen; Sayer, John A