Double heterozygous mutations ofMITFandPAX3result in Waardenburg syndrome with increased penetrance in pigmentary defects

Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome

(2011) Lu Jiang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome

(2010) Hongsheng Chen et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Review and update of mutations causing Waardenburg syndrome

(2010) Véronique Pingault et al.   HUMAN MUTATION

A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy

(2008) Ivana Matera et al.   HUMAN MOLECULAR GENETICS

Pigmentation PAX-ways: the role of Pax3 in melanogenesis, melanocyte stem cell maintenance, and disease

(2008) Jennifer D. Kubic et al.   Pigment Cell & Melanoma Research

Epistatic connections between microphthalmia-associated transcription factor and endothelin signaling in Waardenburg syndrome and other pigmentary disorders

(2007) Kayo Sato-Jin et al.   FASEB JOURNAL