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BBS10

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Retinal Dystrophy Gene Atlas

Abstract

BBS10 encodes a protein that is part of the type II chaperonin family and that, along with BBS12, localizes to the basal body of primary cilia and is responsible for ciliogenesis and adipogenesis [1, 2]. Mutations are responsible for rod-cone (86.9%) and cone-rod (13.1%) dystrophies [3] and for syndromic features associated with Bardet-Biedl syndrome (BBS).

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References

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Zahid, S. et al. (2018). BBS10 . In: Retinal Dystrophy Gene Atlas. Springer, Cham. https://doi.org/10.1007/978-3-319-10867-4_11

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  • DOI: https://doi.org/10.1007/978-3-319-10867-4_11

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