Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation
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Evolución del neurodesarrollo de gemelos dicigóticos con síndrome de Waardenburg e hipoacusia neurosensorial
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A follow‐up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene
Shuzhi Yang et al, 2020, Molecular Genetics & Genomic Medicine CrossRef
DNA-based eyelid trait prediction in Chinese Han population
Qian Wang et al, 2021, International Journal of Legal Medicine CrossRef
Muscle, Connective Tissue, and Neonatal Disorders
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Sox10 Gene Is Required for the Survival of Saccular and Utricular Hair Cells in a Porcine Model
Jing-cui Qi et al, 2022, Molecular Neurobiology CrossRef
Waardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene
Li Li et al, 2021, Bioscience Reports CrossRef
Waardenburg syndrome type 2
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The clinical and genetic research of Waardenburg syndrome type I and II in Chinese families
Qin Liu et al, 2020, International Journal of Pediatric Otorhinolaryngology CrossRef
Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report
Safoura Zardadi et al, 2021, BMC Pediatrics CrossRef
A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia)
Nikolay A. Barashkov et al, 2019, International Journal of Circumpolar Health CrossRef