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

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 hea...

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Detalles Bibliográficos
Autores principales: Zardadi, Safoura, Rayat, Sima, Doabsari, Maryam Hassani, Alishiri, Aliagha, Keramatipour, Mohammad, Shahri, Zeynab Javanfekr, Morovvati, Saeid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7869501/
https://www.ncbi.nlm.nih.gov/pubmed/33557787
http://dx.doi.org/10.1186/s12887-021-02521-6

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