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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Main Authors: Riise, R., Andreasson, S., Borgstrom, M., Wright, A., Tommerup, N., Rosenberg, T., Tornqvist, K.
Format: Artigo
Sprog:Inglês
Udgivet: 1997
Fag:
Original articles - Clinical science
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1722198/
https://ncbi.nlm.nih.gov/pubmed/9227203
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