Article
Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia - 1 Sept 2012
Soliman Neveen A, Hildebrandt Friedhelm, Otto Edgar A, Nabhan Marwa M, Allen Susan J, Badr Ahmed M, Sheba Maha, Fadda Sawsan, Gawdat Ghada, El-Kiky Hassan
Abstract excerpt
Nephronophthisis (NPHP) is a recessive disorder of the kidney that is the leading genetic cause of end-stage renal failure in children. Egypt is a country with a high rate of consanguineous marriages; yet, only a few studies have investigated the clinical and molecular characteristics of NPHP and related ciliopathies in the Egyptian population. We studied 20 children, from 17 independent families, fulfilling the...
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