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Waardenburg syndrome type 1.
Dermatol Online J. 2006 Mar 30; 12(3):21.DO

Abstract

Waardenburg syndrome (WS) is a rare disease characterized by sensorineural deafness in association with pigmentary anomalies and defects of neural-crest-derived tissues. Depending on additional symptoms, WS is classified into four types, WS1, WS2, WS3 and WS4. WS1 and WS3 are attributed to mutations in PAX3, whereas WS2 is heterogeneous, being caused by mutations in the microphthalmia-associated transcription factor gene in some but not all affected families. WS4 is attributed to mutations in the endothelin-3 or the endothelin-B receptor genes and SOX10 gene. WS1 is an auditory-pigmentary disorder comprising sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin, along with dystopia canthorum. We report a case with a confirmed diagnosis of WS1 and review the relevant literature for this rare disorder.

Authors+Show Affiliations

Department of Genetics, State Hospital, Erzurum, Turkey. alikaramandr@hotmail.comNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16638435

Citation

Karaman, Ali, and Cihangir Aliagaoglu. "Waardenburg Syndrome Type 1." Dermatology Online Journal, vol. 12, no. 3, 2006, p. 21.
Karaman A, Aliagaoglu C. Waardenburg syndrome type 1. Dermatol Online J. 2006;12(3):21.
Karaman, A., & Aliagaoglu, C. (2006). Waardenburg syndrome type 1. Dermatology Online Journal, 12(3), 21.
Karaman A, Aliagaoglu C. Waardenburg Syndrome Type 1. Dermatol Online J. 2006 Mar 30;12(3):21. PubMed PMID: 16638435.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Waardenburg syndrome type 1. AU - Karaman,Ali, AU - Aliagaoglu,Cihangir, Y1 - 2006/03/30/ PY - 2006/4/28/pubmed PY - 2006/8/10/medline PY - 2006/4/28/entrez SP - 21 EP - 21 JF - Dermatology online journal JO - Dermatol Online J VL - 12 IS - 3 N2 - Waardenburg syndrome (WS) is a rare disease characterized by sensorineural deafness in association with pigmentary anomalies and defects of neural-crest-derived tissues. Depending on additional symptoms, WS is classified into four types, WS1, WS2, WS3 and WS4. WS1 and WS3 are attributed to mutations in PAX3, whereas WS2 is heterogeneous, being caused by mutations in the microphthalmia-associated transcription factor gene in some but not all affected families. WS4 is attributed to mutations in the endothelin-3 or the endothelin-B receptor genes and SOX10 gene. WS1 is an auditory-pigmentary disorder comprising sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin, along with dystopia canthorum. We report a case with a confirmed diagnosis of WS1 and review the relevant literature for this rare disorder. SN - 1087-2108 UR - https://www.unboundmedicine.com/medline/citation/16638435/Waardenburg_syndrome_type_1_ L2 - http://dermatology.cdlib.org/123/case_presentations/waardenburg/karaman.html DB - PRIME DP - Unbound Medicine ER -