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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...

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Identifiers

PMID: 33557787
DOI: 10.1186/s12887-021-02521-6
PMCID: PMC7869501

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.PMID 33557787Read ↗

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