Article
Whole-exome sequencing identifies a novel compound heterozygous mutation of ANKS6 gene in a Chinese nephronophthisis patient.
Clinica chimica acta; international journal of clinical chemistry - 1 Feb 2020
Fang Boliang, Guo Jun, Hao Chanjuan, Guo Ruolan, Qian Suyun, Li Wei, Jia Xinlei
Abstract excerpt
BACKGROUND: Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease that leads to renal failure in childhood or adolescence. NPHP and the related syndromes have been termed 'ciliopathies' because most NPHP gene products localize to the cilium or its associated structures. METHODS: Here, we report a 2-year and 11-month-old Chinese girl with end-stage renal disease (ESRD), severe anemia,...
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