一例携带BBS10基因复合杂合新突变的巴尔得-别德尔综合征病例报道及文献复习
Chinese Journal of Endocrinology and Metabolism(2022)
Abstract
巴尔得-别德尔综合征(Bardet-Biedl syndrome, BBS)是一种罕见的、高度异质性的常染色体隐性遗传病,其发病机制为纤毛结构或功能异常。本文就1例BBS10突变的23岁女性BBS患者病例报告进行临床分析,并复习国内外文献,提高对该病的认识。
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Key words
Bardet-Biedl syndrome,Case report
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