Article
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Kidney international - 1 Aug 2023
Petzold Friederike, Billot Katy, Chen Xiaoyi, Henry Charline, Filhol Emilie, Martin Yoann, Avramescu Marina, Douillet Maxime, Morinière Vincent, Krug Pauline, Jeanpierre Cécile, Tory Kalman, Boyer Olivia, Burgun Anita, Servais Aude, Salomon Remi, Benmerah Alexandre, Heidet Laurence, Garcelon Nicolas, Antignac Corinne, Zaidan Mohamad, Saunier Sophie
Abstract excerpt
Nephronophthisis (NPH) is an autosomal-recessive ciliopathy representing one of the most frequent causes of kidney failure in childhood characterized by a broad clinical and genetic heterogeneity. Applied to one of the worldwide largest cohorts of patients with NPH, genetic analysis encompassing targeted and whole exome sequencing identified disease-causing variants in 600 patients from 496 families with a...
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