Associated Papers
The Microphthalmia-Associated Transcription Factor (MITF) and Its Role in the Structure and Function of the Eye.
García-Llorca A et al.
Genes, 2024
New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.
Li W et al.
Neural Plasticity, 2019
30936914 (PubMed )
Supplement: 7143458.f3.pdf
A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss.
Liu Y et al.
Plos One, 2019
Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.
Wang XP et al.
Journal of Human Genetics, 2018
Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.
Wildhardt G et al.
Bmj Open, 2013
23512835 (PubMed )
Supplement: bmjopen-2012-001917.draft_revisions.pdf
Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.
Chen H et al.
Biochemical and Biophysical Research Communications, 2010
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