Disease: Waardenburg syndrome type 2A
- A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease
- A homozygous MITF mutation leads to familial Waardenburg syndrome type 4
- A novel mutation of the <em>MITF</em> gene in a family with Waardenburg syndrome type 2: A case report
- A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1)
- A unique hyperdynamic dimer interface permits small molecule perturbation of the melanoma oncoprotein MITF for melanoma therapy
- Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A
- Analysis of clinical phenotype and genetic variants among four Chinese pedigrees affected with Waardenburg syndrome
- Analysis of variability of clinical manifestations in Waardenburg syndrome
- Bilateral asymmetrical partial heterochromia of iris and fundus in Waardenburg syndrome type 2A with a novel <em>MITF</em> gene mutation
- Bilateral asymmetrical partial heterochromia of iris and fundus in Waardenburg syndrome type 2A with a novel MITF gene mutation
- Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis
- Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics
- Establishment of an iPSC line (CSUXHi004-A) from a patient with Waardenburg syndrome type I caused by a PAX3 splice mutation
- Evidence to suggest that expression of MITF induces melanocyte differentiation and haploinsufficiency of MITF causes Waardenburg syndrome type 2A
- Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus
- Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome
- Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes
- Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A
- Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next-generation sequencing
- Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II
- Melanocytes and the microphthalmia transcription factor network
- MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function
- Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome
- Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations
- Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation
- Waardenburg's Syndrome Type IIA with Partial Albinism
- White coat color of a Black Angus calf attributed to an occurrence of the delR217 variant of MITF
- Whole-genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat colour and increased risk of deafness