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What is the history of Bardet-Biedl Syndrome?
When was Bardet-Biedl Syndrome discovered? What is the story of this discovery? Was it coincidence or not?
It was once believed that a syndrome described by Lawrence and Moon in 1866 was the same as one described by Georges Bardet and Artur Biedl in the early 1920s, but these syndromes are now recognized as distinct. There are several other syndromes and diseases caused by cilia defects that share some symptoms with BBS including Joubert Syndrome, Meckel-Gruber Syndrome, Senior-Loken Syndrome, polycystic kidney disease, and nephronophthisis.
Posted Jun 16, 2019 by Bardet-Biedl Netherlands (Bendert & Nienke) 3150
