Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier?

Abstract

We describe a 28-year-old Turkish man with consanguineous parents who presented with an aged appearance with prematurely gray hair and scleroderma-like skin, spastic paraplegia, and apparent disability. The proband and each of his parents were heterozygous for a mutation in WRN, which could not explain his symptoms. Exome sequencing of the proband's blood… (More)
DOI: 10.1002/ajmg.a.36664

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