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Waardenburg syndrome: A rare genetic disorder, a report of two cases.
Indian J Hum Genet ; 2012 May; 18(2): 254-255
Artículo en Inglés | IMSEAR | ID: sea-143283
ABSTRACT
Waardenburg syndrome (WS) is a rare genetic disorder. Patients have heterochromia or eyes with iris of different color, increased inter-canthal distance, distopia canthorum, pigmentation anomalies, and varying degree of deafness. It usually follows autosomal dominant pattern. In this report, two cases have been discussed but no familial history of WS has been found. Counseling of the patient is necessary and cases of irreversible deafness have been treated.

Texto completo: Disponible Índice: IMSEAR (Asia Sudoriental) Idioma: Inglés Revista: Indian J Hum Genet Año: 2012 Tipo del documento: Artículo

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Texto completo: Disponible Índice: IMSEAR (Asia Sudoriental) Idioma: Inglés Revista: Indian J Hum Genet Año: 2012 Tipo del documento: Artículo