Clouston Syndrome: First Case in Russia

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Clouston Syndrome: First Case in Russia

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.

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Balkan Journal of Medical Genetics

The Journal of Macedonian Academy of Sciences and Arts

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