Article
Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization.
American journal of medical genetics - 23 Oct 2000
Ghadami M, Tomita H A, Najafi M T, Damavandi E, Farahvash M S, Yamada K, Majidzadeh-A K, Niikawa N
Abstract excerpt
Bardet-Biedl syndrome (BBS) is a group of autosomal recessive MCA/MR syndromes characterized by pigmentary retinopathy, postaxial polydactyly, hypogenitalism, obesity, and mental retardation. Five BBS loci have been identified; among them, BBS type 1 (BBS1) and type 3 (BBS3) are most common and most rare, respectively. We encountered an Iranian family that had seven affected members. All patients had a history of...
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