Article
AUTS2 Syndrome in a 68-year-old female: Natural history and further delineation of the phenotype.
American journal of medical genetics. Part A - 1 Dec 2016
Sengun Ece, Yararbas Kanay, Kasakyan Serdar, Alanay Yasemin
Abstract excerpt
Here we summarize the clinical and molecular findings in a 68-year-old female with dysmorphic features, mild-to-moderate intellectual disability, and behavioral findings suggesting autism spectrum disorder. SNP array analysis demonstrated a 257 kb deletion comprising exon 6 of AUTS2. This clinical report provides the natural history in the eldest patient yet to be reported, and complements the existing evidence...
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