AUTS2 Syndrome in a 68-Year-Old Female: Natural History and Further Delineation of the Phenotype
Küçük Resim Yok
Tarih
2016
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
WILEY-BLACKWELL
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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.
Açıklama
Anahtar Kelimeler
AUTS2, intellectual disability, autism spectrum disorder, developmental delay
Kaynak
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
WoS Q Değeri
Q3
Scopus Q Değeri
Q2
Cilt
170
Sayı
12
