Norrie-Wardburg syndrome
| dc.contributor.author | Skevas, A. | en |
| dc.contributor.author | Kastanioudakis, I. | en |
| dc.contributor.author | Daniilidis, B. | en |
| dc.contributor.author | Exarchakos, G. | en |
| dc.date.accessioned | 2015-11-24T19:01:34Z | |
| dc.date.available | 2015-11-24T19:01:34Z | |
| dc.identifier.issn | 0935-8943 | - |
| dc.identifier.uri | https://olympias.lib.uoi.gr/jspui/handle/123456789/19707 | |
| dc.rights | Default Licence | - |
| dc.subject | Adult | en |
| dc.subject | Audiometry, Pure-Tone | en |
| dc.subject | Audiometry, Speech | en |
| dc.subject | Deafness/diagnosis/genetics | en |
| dc.subject | Eye Neoplasms/diagnosis/genetics | en |
| dc.subject | Genes, Recessive/genetics | en |
| dc.subject | Humans | en |
| dc.subject | Male | en |
| dc.subject | Sex Chromosome Aberrations/genetics | en |
| dc.subject | Syndrome | en |
| dc.subject | *X Chromosome | en |
| dc.title | Norrie-Wardburg syndrome | en |
| heal.abstract | We describe a case of a 25-year old patient with typical Norrie-Warburg Syndrome. From the first year of his life he was found to be blind, with bilateral sensorineural loss of hearing. Audiological examination showed symmetrical moderate bilateral sensorineural hearing loss. His hearing loss was refractory to treatment for the last eight years. Because of timely diagnosis of hearing loss and timely fitting of a hearing aid, the patient could study at school and graduate from university education. Disease carriers who are clinically healthy can be identified only via chromosome analysis. | en |
| heal.access | campus | - |
| heal.fullTextAvailability | TRUE | - |
| heal.identifier.primary | 10.1055/s-2007-997349 | - |
| heal.identifier.secondary | http://www.ncbi.nlm.nih.gov/pubmed/1418232 | - |
| heal.identifier.secondary | https://www.thieme-connect.de/DOI/DOI?10.1055/s-2007-997349 | - |
| heal.journalName | Laryngorhinootologie | en |
| heal.journalType | peer-reviewed | - |
| heal.language | de | - |
| heal.publicationDate | 1992 | - |
| heal.recordProvider | Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής | el |
| heal.type | journalArticle | - |
| heal.type.el | Άρθρο Περιοδικού | el |
| heal.type.en | Journal article | en |
Αρχεία
Φάκελος/Πακέτο αδειών
1 - 1 of 1
Φόρτωση...
- Ονομα:
- license.txt
- Μέγεθος:
- 1.74 KB
- Μορφότυπο:
- Item-specific license agreed upon to submission
- Περιγραφή: