Cargando…
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...
Autores principales: | Stingl, Cybil S., Jackson-Cook, Colleen, Couser, Natario L. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7189309/ https://www.ncbi.nlm.nih.gov/pubmed/32373379 http://dx.doi.org/10.1155/2020/2031701 |
Ejemplares similares
-
16p11.2 microdeletion syndrome: a case report
por: Dell’Edera, D., et al.
Publicado: (2018) -
Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion
por: Wang, You, et al.
Publicado: (2022) -
Bifocal germinoma in a patient with 16p11.2 microdeletion syndrome
por: Ventura, Mara, et al.
Publicado: (2019) -
Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion
por: Termsarasab, Pichet, et al.
Publicado: (2014) -
Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features
por: Chen, Yu-Lan, et al.
Publicado: (2022)