Article
Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association.
Kidney international - 1 Oct 2006
Caridi G, Dagnino M, Rossi A, Valente E M, Bertini E, Fazzi E, Emma F, Murer L, Verrina E, Ghiggeri G M
Abstract excerpt
Type 1 nephronophthisis (NPHP) with homozygous deletions of nephrocystin [NPHP1, DEL] has been considered a pure renal disorder, but co-occurrence of extrarenal symptoms, mainly retinitis pigmentosa, is observed in a subset of patients. Recently, [NPHP1, DEL] has been detected in three patients with Joubert syndrome-related disorders (JSRDs), who associated neurological signs with a peculiar neuroradiological...
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