Article
Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.
BMC pediatrics - 8 Feb 2021
Zardadi Safoura, Rayat Sima, Doabsari Maryam Hassani, Alishiri Aliagha, Keramatipour Mohammad, Shahri Zeynab Javanfekr, Morovvati Saeid
Abstract excerpt
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 congenital hearing loss and heterochromia iridis with a blue segment in his left iris. The second case was a 1.5-year-old...
Topics
- Child, Preschool
- Eye Color
- Female
- Humans
- Infant
- Infant, Newborn
- Iran
- Male
- Microphthalmia-Associated Transcription Factor
- Mutation
- PAX3 Transcription Factor
- Pedigree
- Phenotype