Guissart, Claire et al. European Journal of Human Genetics. 2015 Dec
Claire Guissart and colleagues have performed a whole-exome sequenging of an Arab Israeli consanguineous family with a syndromic inherited ataxias. They concluded both SLC52A2 and PEX6 should be included in screening panels for the diagnosis of syndromic inherited ataxias.
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KATE THOMSON, FRCPath
Cardiac Service Oxford University Hospitals
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