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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,...
Sparad:
| Huvudupphovsmän: | , , , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
1997
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1722198/ https://ncbi.nlm.nih.gov/pubmed/9227203 |
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