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Article

Mutations in TTC21B cause different phenotypes in two childhood cases in China.

Nephrology (Carlton, Vic.) - 1 Apr 2018

Zhang Hongwen, Su Baige, Liu Xiaoyu, Xiao Huijie, Ding Jie, Yao Yong

Abstract excerpt

AIM: The TTC21B gene is now known as causative of nephronophthisis-related ciliopathies (NPHP-RC). We reported two Chinese paediatric cases with end-stage renal disease and other phenotypes caused by the TTC21B gene mutations. METHODS: The clinical features of Chinese paediatric cases with NPHP-RC were summarized. Mutation analysis of the TTC21B gene was performed using next-generation sequencing. RESULTS: The...

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PMID: 28124483
DOI: 10.1111/nep.13008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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