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Genetic Heterogeneity of Bardet–Biedl Syndrome in a Distinct Canadian Population: Evidence for a Fifth Locus

✍ Scribed by Michael O. Woods; Terry-Lynn Young; Patrick S. Parfrey; Donna Hefferton; Jane S. Green; William S. Davidson

Book ID
115614560
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
117 KB
Volume
55
Category
Article
ISSN
0888-7543

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✍ Susan J. Moore; Jane S. Green; Yanli Fan; Ashvinder K. Bhogal; Elizabeth Dicks; 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 230 KB 👁 2 views

Bardet-Biedl syndrome (BBS) and Laurence-Moon syndrome (LMS) have a similar phenotype, which includes retinal dystrophy, obesity, and hypogenitalism. They are differentiated by the presence of spasticity and the absence of polydactyly in LMS. The aims of this study were to describe the epidemiology