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Connexin 26 (GJB2) mutation in KID syndrome : an Egyptian patient
Joint Authors
al-Sayyid, Sulaf M.
Sayf al-Din, Nifin S.
Bolz, Hanno
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 12, Issue 1 (30 Jun. 2011), pp.91-93, 3 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2011-06-30
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Topics
Abstract EN
Keratitis ± ichthyosis ± deafness (KID) syndrome is a rare disorder characterized by the occurrence of localized erythematous scaly skin lesions, severe bilateral keratitis, and sensorineural deafness.
Other ocular manifestations include corneal epithelial defects and scarring, which cause progressive decline of visual acuity and may eventually lead to blindness.
To our knowledge, few cases have been reported worldwide and none were reported from the Middle East Arab countries.
Here we report the first Egyptian patient with this syndrome.
American Psychological Association (APA)
al-Sayyid, Sulaf M.& Sayf al-Din, Nifin S.& Bolz, Hanno. 2011. Connexin 26 (GJB2) mutation in KID syndrome : an Egyptian patient. The Egyptian Journal of Medical Human Genetics،Vol. 12, no. 1, pp.91-93.
https://search.emarefa.net/detail/BIM-380179
Modern Language Association (MLA)
al-Sayyid, Sulaf M.…[et al.]. Connexin 26 (GJB2) mutation in KID syndrome : an Egyptian patient. The Egyptian Journal of Medical Human Genetics Vol. 12, no. 1 (2011), pp.91-93.
https://search.emarefa.net/detail/BIM-380179
American Medical Association (AMA)
al-Sayyid, Sulaf M.& Sayf al-Din, Nifin S.& Bolz, Hanno. Connexin 26 (GJB2) mutation in KID syndrome : an Egyptian patient. The Egyptian Journal of Medical Human Genetics. 2011. Vol. 12, no. 1, pp.91-93.
https://search.emarefa.net/detail/BIM-380179
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 93
Record ID
BIM-380179