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

Simicic Majce, Ana; Tudor, Darija; Simunovic, Marko; Todorovic, Marko; Parlov, Mladenka; Lozic, Bernarda; Saraga-Babic, Mirna; Saraga, Marijan; Arapovic, Adela

Simicic Majce, Ana; Tudor, Darija; Simunovic, Marko; Todorovic, Marko; Parlov, Mladenka; Lozic, Bernarda; Saraga-Babic, Mirna; Saraga, Marijan; Arapovic, Adela.

Afiliação

Simicic Majce A; Paediatric Diseases Department, University Hospital of Split, Spinciceva 1, Split, Croatia.
Tudor D; Paediatric Diseases Department, University Hospital of Split, Spinciceva 1, Split, Croatia.
Simunovic M; Paediatric Diseases Department, University Hospital of Split, Spinciceva 1, Split, Croatia.
Todorovic M; University of Split School of Medicine, Soltanska 2, Split, Croatia.
Parlov M; Paediatric Diseases Department, University Hospital of Split, Spinciceva 1, Split, Croatia.
Lozic B; Physical Medicine and Rehabilitation with Rheumatology Division, University Hospital of Split, Spinciceva 1, Split, Croatia.
Saraga-Babic M; Paediatric Diseases Department, University Hospital of Split, Spinciceva 1, Split, Croatia.
Saraga M; University of Split School of Medicine, Soltanska 2, Split, Croatia.
Arapovic A; University of Split School of Medicine, Soltanska 2, Split, Croatia.