Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1

• Published in: Auris, nasus, larynx Vol. 45; no. 2; pp. 222 - 226
• Main Authors: Morimoto, Noriko, Mutai, Hideki, Namba, Kazunori, Kaneko, Hiroki, Kosaki, Rika, Matsunaga, Tatsuo
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.04.2018
• Subjects: Dystopia canthorum; EDNRB; Hearing loss; Hirschsprung’s disease; Otolaryngology; Waardenburg syndrome; EDNRB; Waardenburg syndrome; Dystopia canthorum; Hirschsprung’s disease; Hearing loss

Abstract Objective To examine and expand the genetic spectrum of Waardenburg syndrome type 1 (WS1). Methods Clinical features related to Waardenburg syndrome (WS) were examined in a five-year old patient. Mutation analysis of genes related to WS was performed in the proband and her parents. Molecula...