Vohwinkel syndrome
Definition:
References:
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[1]. Akemi Ishida-Yamamoto, et al. Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin. J Dermatol Sci. 2003 Feb;31(1):3-8. [Content Brief]
[2]. B P Korge, et al. Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis. J Invest Dermatol. 1997 Oct;109(4):604-10. [Content Brief]
[3]. E Maestrini, et al. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum Mol Genet. 1999 Jul;8(7):1237-43. [Content Brief]
[4]. Jack R Lee, et al. Connexin-26 mutations in deafness and skin disease. Expert Rev Mol Med. 2009 Nov 19;11:e35. [Content Brief]
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