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Schaefer, Elise et al. Journal of Human Genetics.

Schaefer, Elise et al. Journal of Human Genetics. 2016 Jan

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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Wellington Regional Genetics Laboratory, Wellington, New Zealand



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