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A novel mutation in BBS7 gene causes Bardet–Biedl syndrome in a Chinese family
PURPOSE: To describe the clinical features of and identify a novel mutation in Bardet–Biedl syndrome 7 gene (BBS7) in a Chinese family. METHODS: Nineteen individuals at risk for inheriting Bardet-Biedl syndrome (BBS) in a Chinese family participated in the study. Physical examination was performed a...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2603185/ https://www.ncbi.nlm.nih.gov/pubmed/19093007 |