Identification of a new homozygous CEP290 gene mutation in a Saudi Family causing joubert syndrome using next-generation sequencing
A 19-year-old female with a learning difficulty, ataxia, and nystagmus was referred to our clinic with advanced chronic kidney disease. Her renal biopsy revealed features of nephronophthisis (NPHP). Magnetic resonance imaging of the brain showed “molar tooth sign.” The clinical picture was consisten...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2019-01-01
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| Series: | Saudi Journal of Kidney Diseases and Transplantation |
| Online Access: | http://www.sjkdt.org/article.asp?issn=1319-2442;year=2019;volume=30;issue=4;spage=964;epage=968;aulast=Abdelgadir |