案例解读

案例一：

案例二：

[1]   Yangyan Xiao,Xiao Liu.et al. X-Linked Retinoschisis:Phenotypic Variabolity in a Chinese Family.  Scientific Reports. 29 January 2016. DOI:10.1038/Srep20118

[2]   Bart G.P.Koot.Marielle Alders, et al.A de novo mutation in KCNN3 associated with autosomal dominant idiopathic non-cirrhotic portal hypertension.Journal of Hepatology. 2016 vol. 64 j 974-977