Bardet-Biedl syndrome caused by compound heterozygosity in BBS12 gene: a case report of one family with three affected members

• Main Authors: Ana Simičić Majce (Author), Darija Tudor (Author), Marko Simunovic (Author), Marko Todorovic (Author), Mladenka Parlov (Author), Bernarda Lozic (Author), Mirna Saraga-Babić (Author), Marijan Saraga (Author), Adela Arapović (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...