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Article

Novel multi-allelic variants, two BBS2 and one PKD1 variant, of renal ciliopathies: A case report and literature review.

European journal of medical genetics - 1 Jun 2023

Zhong Fazhan, Tan Mei, Gao Yan

Abstract excerpt

BACKGROUND: Bardet-Biedl syndrome (BBS) and autosomal dominant polycystic kidney disease (ADPKD) are renal ciliopathies. BBS has 22 pathogenic genes, and ADPKD is mainly caused by PKD1 and PKD2 variants. Cases with tri-allelic variants of BBS and PKD1 are rare. CASE PRESENTATION: The proband was an 11-year-old Chinese male with cysts in both kidneys, blurred vision, hyperopia, and short fingers and toes. The...

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PMID: 37003573
DOI: 10.1016/j.ejmg.2023.104753

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