Article
NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility.
Clinical genetics - 1 Apr 2014
Alazami A M, Alshammari M J, Baig M, Salih M A, Hassan H H, Alkuraya F S
Abstract excerpt
Nephronophthisis is the most common genetic cause of renal failure in children and young adults. It is genetically heterogeneous and can be seen in isolation or in combination with other ciliopathy phenotypes. Here we report an index case where nephronophthisis is associated with oculomotor apraxia and cerebellar abnormalities, consistent with the clinical diagnosis of cerebello-oculo-renal syndrome. Prompted by...
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