Bardet–Biedl syndrome (BBS) is a very‐rare autosomal recessive genetic disorder with severe multisystem manifestations. Genetic testing plays an important role in the early diagnosis of the disease. In this study, while trying to elucidate the genetic etiology of seven individuals with clinical BBS diagnosis from six different families, we also aimed to examine the distribution of BBS variations in this region of Turkey.

中文翻译：

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来自土耳其的 7 名 Bardet-Biedl 综合征儿童的临床和外显子组测序结果

Bardet-Biedl 综合征 (BBS) 是一种非常罕见的常染色体隐性遗传病，具有严重的多系统表现。基因检测在疾病的早期诊断中起着重要作用。在这项研究中，在试图阐明来自六个不同家族的七个具有临床 BBS 诊断的个体的遗传病因学的同时，我们还旨在检查土耳其该地区 BBS 变异的分布。