A novel pathogenic mutation of BBS5 in atypical Bardet-Biedl syndrome patient with prominent clinical manifestation of chronic renal failure: case report

SHEN Jin-feng; CAO Yan; SHUAI Lan-jun; WU Xiao-chuan

doi:10.12025/j.issn.1008-6358.2018.20170866

SHEN Jin-feng, CAO Yan, SHUAI Lan-jun, et al. A novel pathogenic mutation of BBS5 in atypical Bardet-Biedl syndrome patient with prominent clinical manifestation of chronic renal failure: case report[J]. Chin J Clin Med, 2018, 25(4): 676-678. DOI: 10.12025/j.issn.1008-6358.2018.20170866

Citation:

SHEN Jin-feng, CAO Yan, SHUAI Lan-jun, et al. A novel pathogenic mutation of BBS5 in atypical Bardet-Biedl syndrome patient with prominent clinical manifestation of chronic renal failure: case report[J]. Chin J Clin Med, 2018, 25(4): 676-678. DOI: 10.12025/j.issn.1008-6358.2018.20170866

Citation:

SHEN Jin-feng, CAO Yan, SHUAI Lan-jun, et al. A novel pathogenic mutation of BBS5 in atypical Bardet-Biedl syndrome patient with prominent clinical manifestation of chronic renal failure: case report[J]. Chin J Clin Med, 2018, 25(4): 676-678. DOI: 10.12025/j.issn.1008-6358.2018.20170866

A novel pathogenic mutation of BBS5 in atypical Bardet-Biedl syndrome patient with prominent clinical manifestation of chronic renal failure: case report

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A novel pathogenic mutation of BBS5 in atypical Bardet-Biedl syndrome patient with prominent clinical manifestation of chronic renal failure: case report

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