Bardet-Biedl syndrome caused by compound heterozygosity in BBS12 gene: a case report of one family with three affected members
IntroductionBardet-Biedl syndrome (BBS) is a rare genetic syndrome caused by a mutation in one of 26 different genes responsible for normal structure and/or function of primary cilia. The syndrome is characterized by multiorgan involvement with gradual onset of occurrence of clinical signs and sympt...
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| Main Authors: | , , , , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2023-07-01T00:00:00Z.
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