Article
Intrafamilial variation of the phenotype in Bardet-Biedl syndrome.
The British journal of ophthalmology - 1 May 1997
Riise R, Andréasson S, Borgaström M K, Wright A F, Tommerup N, Rosenberg T, Tornqvist K
Abstract excerpt
AIMS: To describe the variation of the phenotype within families with several individuals with Bardet-Biedl syndrome. METHODS: The phenotypes of affected siblings in 11 Scandinavian families with two or more members who had at least three of the features: retinal dystrophy, polydactyly, obesity, hypogenitalism, and mental retardation, were compared [corrected]. Individuals without retinal dystrophy were excluded....
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