Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review

• Những tác giả chính: Cybil S. Stingl (Tác giả), Colleen Jackson-Cook (Tác giả), Natario L. Couser (Tác giả)
• Định dạng: Sách
• Được phát hành: Hindawi Limited, 2020-01-01T00:00:00Z.
• Những chủ đề: article
• Truy cập trực tuyến: Connect to this object online.

The recurrent 16p11.2 microdeletion is characterized by developmental delays and a wide spectrum of congenital anomalies. It has been well reported that individuals with this ∼593-kb interstitial deletion have an increased susceptibility toward the autism spectrum disorder (ASD). Abnormalities of th...