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Balkan J Med Genet. 2012 Jun;15(1):51-4. doi: 10.2478/v10034-012-0008-9.

Clouston syndrome: first case in Russia.

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1
Laboratory of Genetic Epidemiology, Federal State Budgetary Institution "Research Centre for Medical Genetics" under the Russian Academy of Medical Sciences, Moscow, Russian Federation.

Abstract

Hidrotic ectodermal dysplasia type 2 (HED2) or Clouston syndrome (OMIM #129500) is a rare autosomal dominant genetic disorder which affects skin and its derivatives, characterized by the major triad of features: nail dystrophy, generalized hypotrichosis, and palmoplantar hyperkeratosis. Here we describe the first case of Clouston syndrome in Russia and the molecular genetic analysis of this case.

KEYWORDS:

Clouston syndrome; Cx30; GJB6; Hidrotic ectodermal dysplasia type 2 (HED2)

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