The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy
Open Access
- 1 March 2011
- journal article
- case report
- Published by Elsevier BV in Kidney International
- Vol. 79 (6), 691-692
- https://doi.org/10.1038/ki.2010.514
Abstract
No abstract availableKeywords
This publication has 5 references indexed in Scilit:
- When cilia go bad: cilia defects and ciliopathiesNature Reviews Molecular Cell Biology, 2007
- Alström SyndromeEuropean Journal of Human Genetics, 2007
- Nephronophthisis-Associated CiliopathiesJournal of the American Society of Nephrology, 2007
- Syndromic Obesity and Diabetes: Changes in Body Composition with Age and Mutation Analysis of ALMS1 in 12 United Kingdom Kindreds with Alström SyndromeJournal of Clinical Endocrinology & Metabolism, 2006
- New Alström Syndrome Phenotypes Based on the Evaluation of 182 CasesArchives of Internal Medicine, 2005