| Identifier |
20220213_nanos_posters_071 |
| Title |
An Unusual Case of Inner and Outer Retinal Changes in Patient With 1q21.1 Microduplication Syndrome |
| Creator |
Nelli Galoyan; Sidney Gospe III; Vandana Shashi; Heidi Cope; Jennifer Sullivanl Tais Estrela; Mays El-Dairi |
| Affiliation |
(NG) (SG) (TE) (ME) Duke Eye Center, Durham, NC; (VS) (HC) (JS) Duke Pediatrics, Durham, NC |
| Subject |
Genetic Disease; Optic Neuritis; Vascular Disorders; Retina; Diagnostic Tests (ERG, VER, OCT, HRT, mfERG, etc) |
| Description |
Distal 1q21.1 microduplication syndrome has variable expressivity including autism spectrum disorder, intellectual disability, ADHD, tetralogy of Fallot, other congenital anomalies.1, 2 The BCL9 gene is located within the 1q21 region and encodes a nuclear retention factor for β-catenin, a critical part of the WNT signaling pathway. WNT proteins play an indispensable role in angiogenesis. |
| Date |
2022-02 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2022 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2022: Poster Session I: Miscellaneous |
| Collection |
Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| Publisher |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Holding Institution |
North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416 |
| Rights Management |
Copyright 2022. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6ptqee3 |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Setname |
ehsl_novel_nam |
| ID |
2062746 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6ptqee3 |
