Article
The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Oct 2002
Riise Ruth, Tornqvist Kristina, Wright Alan F, Mykytyn Kirk, Sheffield Val C
Abstract excerpt
OBJECTIVE: To describe the phenotype of the Bardet-Biedl syndrome in patients with mutations in the BBS4 gene. METHODS: We examined 3 pairs of siblings with Bardet-Biedl syndrome in whom 3 different mutations in the BBS4 gene were detected, 2 of which were homozygous for the mutation. RESULTS: All patients had an increased body mass index. The obesity varied between families from moderate to severe. All of the...
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