Search for dissertations about: "Bardet-Biedl syndrome. Retinal dystrophy. Retinitis Pigmentosa. Obesity. Dental anomalies. Skeletal"

Found 1 swedish dissertation containing the words Bardet-Biedl syndrome. Retinal dystrophy. Retinitis Pigmentosa. Obesity. Dental anomalies. Skeletal.

2. 1. Laurence-Moon-Bardet-Biedl syndrome. Clinical,electrophysiological and genetic aspects

   Author : Ruth Riise; Lund Oftalmologi; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Laurence-Moon-Bardet-Biedl syndrome; Bardet-Biedl syndrome. Retinal dystrophy. Retinitis Pigmentosa. Obesity. Dental anomalies. Skeletal anomalies. Hypogenitalism. Variation. Overlapping. Genetic linkage mapping.; Alström syndrome; Ophtalmology; Oftalmologi;

   Abstract : The study included 44 Scandinavian individuals with the autosomal recessive inherited Laurence-Moon-Bardet-Biedl syndrome. Inclusion criteria were retinal dystrophy plus at least 2 more of the remaining traditional cardinal signs of the syndrome: obesity, polydactyly, hypogenitalism and mental retardation. READ MORE