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Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family
Bardet–Biedl syndrome (BBS) is a model ciliopathy characterized by a wide range of clinical variability. The heterogeneity of this condition is reflected in the number of underlying gene defects and the epistatic interactions between the proteins encoded. BBS is generally inherited in an autosomal r...
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| Autori principali: | , , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Wiley Periodicals, Inc.
2014
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3960054/ https://ncbi.nlm.nih.gov/pubmed/24689075 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.50 |
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