Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report

• Main Authors: Safoura Zardadi (Author), Sima Rayat (Author), Maryam Hassani Doabsari (Author), Aliagha Alishiri (Author), Mohammad Keramatipour (Author), Zeynab Javanfekr Shahri (Author), Saeid Morovvati (Author)
• Format: Book
• Published: BMC, 2021-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Waardenburg syndrome (WS) is a rare genetic disorder. The purpose of this study was to investigate clinical and molecular characteristics of WS in four probands from four different Iranian families. Case presentation The first patient was a 1-year-old symptomatic boy with congeni...