Intrafamilial variation of the phenotype in Bardet–Biedl syndrome

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 were compared with two or more members who had at least three of the features: retinal dystrophy, polydactyly,...

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Veröffentlicht in:	British journal of ophthalmology 1997-05, Vol.81 (5), p.378-385
Hauptverfasser:	Riise, Ruth, Andréasson, Sten, Borgström, Margareta K, Wright, Alan F, Tommerup, Niels, Rosenberg, Thomas, Tornqvist, Kristina
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Adolescent Adult Bardet–Biedl syndrome Biological and medical sciences Child Child, Preschool Chromosomes Chromosomes, Human, Pair 15 - genetics Complex syndromes Diabetes Female Genetic Linkage Genotype & phenotype Humans Intellectual disabilities Intelligence Intelligence tests intrafamilial variation Kidney diseases Laurence-Moon Syndrome - genetics Laurence-Moon Syndrome - physiopathology Male Medical genetics Medical sciences Motor Activity Mutation Obesity Original articles - Clinical science Paralysis Pedigree Phenotype Prospective Studies Siblings
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