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

• Үндсэн зохиолчид: Safoura Zardadi (Зохиогч), Sima Rayat (Зохиогч), Maryam Hassani Doabsari (Зохиогч), Aliagha Alishiri (Зохиогч), Mohammad Keramatipour (Зохиогч), Zeynab Javanfekr Shahri (Зохиогч), Saeid Morovvati (Зохиогч)
• Формат: Ном
• Хэвлэсэн: BMC, 2021-02-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: 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...