AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.170, ss.3231-3236, 2016 (SCI İndekslerine Giren Dergi)
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 suggesting that disruption of the AUTS2 leads to a recently delineated neurodevelopmental phenotype with a wide spectrum, namely "AUTS2 Syndrome." (C) 2016 Wiley Periodicals, Inc.