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Searching for Effective Methods of Diagnosing Nervous System Lesions in Patients with Alström and Bardet-Biedl Syndromes
1. Introduction Primary cilia are non-motile tubule-based structures present in most cells of the human body and responsible for transmitting and combining intracellular and extracellular signals [1]. The products of the BBS (BBSsome and chaperonin complex) and ALMS genes are responsible for the normal functioning of cilia, and disruption of their function leads to the development of various diseases belonging to the ciliopathy group, including Alström (ALMS) and Bardet–Biedl (BBS) syndromes [2].
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