Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion
Microdeletions at 19p13.3 are rarely reported in the medical literature with significant phenotypic variability. Among the reported cases, common clinical manifestations have included developmental delay, facial dysmorphism, and hypotonia. Herein we described a child with a de novo 19p13.3 microdele...
Saved in:
| Main Authors: | L. Swan, D. Coman |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2018-01-01
|
| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2018/2492437 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Prenatal Diagnosis of 17p13.1p13.3 Duplication
by: Kirsi Kiiski, et al.
Published: (2012-01-01) -
Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review
by: Cybil S. Stingl, et al.
Published: (2020-01-01) -
Case report: Recurrent catatonia in a patient with 17p13.3 microduplication syndrome
by: Ilya Querter, et al.
Published: (2025-06-01) -
Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review
by: Wenjie Sun, et al.
Published: (2025-01-01) -
Ocular manifestations of COVID-19
by: Sandra Saray Quignón Santana, et al.
Published: (2022-12-01)