Associated Papers
Genetic insights into Tietz albinism-deafness syndrome: A new dominant-negative mutation in MITF.
Yamamoto K et al.
Pigment Cell & Melanoma Research, 2024
Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.
Zardadi S et al.
Bmc Pediatrics, 2021
Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.
Léger S et al.
European Journal of Human Genetics : Ejhg, 2012
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