Elise Schaefer and colleagues present a whole-exome sequencing analysis of a consanguineous family in which two affected children presented typical Bardet–Biedl syndrome (BBS) features (retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism and cognitive impairment). They identified a novel homozygous splice-site mutation in IFT172, NM_015662.2: c.4428+3A>G.
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Schaefer, Elise et al. Journal of Human Genetics.
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JO MARTINDALE
Wellington Regional Genetics Laboratory, Wellington, New Zealand
