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

Medicine

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