Waardenburg syndrome
Definition:
References:
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[1]. E G Puffenberger, et al. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell. 1994 Dec 30;79(7):1257-66. [Content Brief]
[2]. M Tassabehji, et al. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet. 1994 Nov;8(3):251-5. [Content Brief]
[3]. Manuel Sánchez-Martín, et al. SLUG (SNAI2) deletions in patients with Waardenburg disease. Hum Mol Genet. 2002 Dec 1;11(25):3231-6. [Content Brief]
[4]. N Bondurand, et al. A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. Hum Mol Genet. 1999 Sep;8(9):1785-9. [Content Brief]
[5]. P Edery, et al. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet. 1996 Apr;12(4):442-4. [Content Brief]
[6]. V Pingault, et al. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet. 1998 Feb;18(2):171-3. [Content Brief]
[7]. Véronique Pingault, et al. Review and update of mutations causing Waardenburg syndrome. Hum Mutat. 2010 Apr;31(4):391-406. [Content Brief]
[8]. Xavier Nissan, et al. Functional melanocytes derived from human pluripotent stem cells engraft into pluristratified epidermis. Proc Natl Acad Sci U S A. 2011 Sep 6;108(36):14861-6. [Content Brief]
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