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Two novel variants in a Bardet-Biedl syndrome type 5 patient with severe renal phenotype.

Nephrology (Carlton, Vic.) - 1 Nov 2022

Shao Yingfei, An Ming, Shi Xiaomeng, Shao Leping

Abstract excerpt

Bardet-Biedl syndrome type 5 (BBS5) has never been reported in Chinese populations. The aim of this study is to report the first BBS5 case in China, explore the phenotype and genotype correlation. The case was male, Han nationality, born with polydactyly and gained weight after birth, accompanied by polydipsia, polyuria and nocturia. He was found to have low vision at the age of 7 years, and having insufficient...

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PMID: 35951741
DOI: 10.1111/nep.14087

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