Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review
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...
Main Authors: | Cybil S. Stingl, Colleen Jackson-Cook, Natario L. Couser |
---|---|
Format: | Article |
Language: | English |
Published: |
Hindawi Limited
2020-01-01
|
Series: | Case Reports in Pediatrics |
Online Access: | http://dx.doi.org/10.1155/2020/2031701 |
Similar Items
-
16p11.2 microdeletion syndrome: a case report
by: D. Dell’Edera, et al.
Published: (2018-04-01) -
Bifocal germinoma in a patient with 16p11.2 microdeletion syndrome
by: Mara Ventura, et al.
Published: (2019-02-01) -
Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion
by: Pichet Termsarasab, et al.
Published: (2014-11-01) -
Mosaicism in 22q11.2 Microdeletion Syndrome
by: Ashutosh Halder, et al.
Published: (2018-11-01) -
Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features
by: Chen, D.-F, et al.
Published: (2022)