Article
Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.
Pediatric nephrology (Berlin, Germany) - 1 Sept 2015
Lee Jiwon M, Ahn Yo Han, Kang Hee Gyung, Ha I I Soo, Lee Kyoungbun, Moon Kyung Chul, Lee Joo Hoon, Park Young Seo, Cho Yong Mee, Bae Jun-Seok, Kim Nayoung K D, Park Woong-Yang, Cheong Hae I I
Abstract excerpt
BACKGROUND: Nephronophthisis 13 (NPHP 13) is associated with mutations in the WDR19 gene, which encodes for a protein in the intraflagellar transport complex. Herein, we describe six additional cases accompanied by Caroli syndrome or disease. METHODS: Targeted exome sequencing covering 96 ciliopathy-related genes was performed for 48 unrelated Korean patients with a clinical suspicion of NPHP. Mutations were...
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