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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Bibliografiske detaljer
Main Authors: González-del Pozo, María, Méndez-Vidal, Cristina, Santoyo-Lopez, Javier, Vela-Boza, Alicia, Bravo-Gil, Nereida, Rueda, Antonio, García-Alonso, Luz, Vázquez-Marouschek, Carmen, Dopazo, Joaquín, Borrego, Salud, Antiñolo, Guillermo
Format: Artigo
Sprog:Inglês
Udgivet: Wiley Periodicals, Inc. 2014
Fag:
Original Article
Online adgang: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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