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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...
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