| Identifier |
20100309_nanos_posters_054.pdf |
| Title |
Neuro-ophthalmologic Abnormalities in a de novo Terminal 6q Deletion |
| Creator |
Thomas Bosley; Khaled Abu-Amero; Ali Hellani; Mustafa Salih; Abdulkarim al Hussain; Majed al Obailan; Ghassan Zidan; Ibrahim Alorainy |
| Affiliation |
(AT) (KA) (AH) (MS) (AH) (MO) (GZ) (IA) College of Medicine, King Saud University, Riyadh, Saudi Arabia, (AH) Saad Specialist Hospital, Al-Khobar, Saudi Arabia |
| Subject |
Chromosome Deletion; Mental Retardation; Congenital Nystagmus; Esotropia; Thick Cornea |
| Description |
Terminal deletions of the long arm of chromosome 6 are relatively rare [1-2], but a typical phenotype has been proposed to include mental retardation, esotropia, developmental hypotonia, microcephaly, brain anomalies, seizures, and facial dysmorphism [2-5]. |
| Date |
2010-03-09 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2010 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS 2010: Poster Presentations |
| Collection |
Neuro-Ophthalmology Virtual Education Library: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/ |
| Publisher |
North American Neuro-Ophthalmology Society |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
Copyright 2010. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s61008nn |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Setname |
ehsl_novel_nam |
| ID |
180710 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s61008nn |
