摘要: |
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关键词: Bardet-Biedl综合征 肾功能衰竭 性腺发育不良 |
DOI:10.12025/j.issn.1008-6358.2018.20170866 |
分类号:R 692.5 |
基金项目: |
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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 |
SHEN Jin-feng,CAO Yan,SHUAI Lan-jun,WU Xiao-chuan*
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Children’s Medical Center,the Second Xiangya Hospital of Central South University,Changsha 410011,Hunan,China
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Abstract: |
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Key words: Bardet-Biedl syndrome renal failure gonad dysplasia |