William Bertani-Torres, Karina Lezirovitz, Danillo Alencar-Coutinho, Eliete Pardono, Silvia Souza da Costa, Larissa do Nascimento Antunes, Judite de Oliveira, Paulo Alberto Otto, Véronique Pingault, Regina Célia Mingroni-Netto
Waardenburg syndrome (WS) is characterized by hearing loss and pigmentary abnormalities of the eyes, hair, and skin. The condition is genetically heterogeneous, and is classified into four clinical types differentiated by the presence of dystopia canthorum in type 1 and its absence in type 2. Additionally, limb musculoskeletal abnormalities and Hirschsprung disease differentiate types 3 and 4, respectively. Genes PAX3 , MITF , SOX10 , KITLG , EDNRB , and EDN3 are already known to be associated with WS. In WS, a certain degree of molecularly undetected patients remains, especially in type 2...
December 21, 2023: Audiology Research