Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in <i>BBS2</i> Gene in a Family with Bardet-Biedl Syndrome

<div>Pedigree chart of our patient’s family with BBS. Results of Sanger sequencing for both the proband and her mother are shown. Father and sister’s DNA were unavailable. Filled and unfilled symbols indicate affected and unaffected individuals, respectively. Squares and circles represent males and females, respectively. The arrow indicates the proband.</div>

BioMed Research International

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Figure 1

Figure 1: Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in <i>BBS2</i> Gene in a Family with Bardet-Biedl Syndrome 

BioMed Research International

Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome

Figure 1