Article
Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Løken syndrome.
Nephrology (Carlton, Vic.) - 1 Dec 2013
Tong Huajuan, Yue Zhihui, Sun Liangzhong, Chen Huiqin, Wang Weiguang, Wang Haiyan
Abstract excerpt
Senior-Løken syndrome is a rare syndromic form of nephronophthisis that is associated with retinal dystrophy. Presently, seven genes (NPHP1-6 and NPHP10) have been associated with Senior-Løken syndrome. NPHP5 mutations are known to cause classical Senior-Løken syndrome. Here, we report two sisters (II-4, II-5) from a Chinese Han ethnic family who presented with classical Senior-Løken syndrome. Both affected...
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