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Investigation of genetic variants causing Bardet–Biedl syndrome in Iranian families: Identification of a founder mutation in BBS2, p.T157T

2023-10-18

Abstract excerpt

<h4>Background: </h4> Bardet-Biedl Syndrome (BBS) is a rare inherited ciliopathy disorder characterized by a wide range of clinical symptoms affecting multiple body systems. All BBS genes are involved in cilia function as a part of the BBSome complex. Mutations of BBS genes are not completely understood, suggesting that more research is needed to develop a molecular diagnostic strategy for this syndrome. Methods a...

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Literature Corpus work: 70348569-2148-596b-b50b-395303468f52
DOI: 10.21203/rs.3.rs-3445871/v1

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