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Balkan Journal of Medical Genetics

The Journal of Macedonian Academy of Sciences and Arts

2 Issues per year


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1311-0160
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Clouston Syndrome: First Case in Russia

A Marakhonov
  • Laboratory of Genetic Epidemiology, Federal State Budgetary Institution "Research Centre for Medical Genetics" under the Russian Academy of Medical Sciences, Moscow, Russian Federation
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ M Skoblov
  • Laboratory of Genetic Epidemiology, Federal State Budgetary Institution "Research Centre for Medical Genetics" under the Russian Academy of Medical Sciences, Moscow, Russian Federation
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ V Galkina
  • Laboratory of Genetic Epidemiology, Federal State Budgetary Institution "Research Centre for Medical Genetics" under the Russian Academy of Medical Sciences, Moscow, Russian Federation
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ R Zinchenko
  • Laboratory of Genetic Epidemiology, Federal State Budgetary Institution "Research Centre for Medical Genetics" under the Russian Academy of Medical Sciences, Moscow, Russian Federation
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2012-07-20 | DOI: https://doi.org/10.2478/v10034-012-0008-9

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.

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

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About the article


Published Online: 2012-07-20

Published in Print: 2012-01-01


Citation Information: Balkan Journal of Medical Genetics, Volume 15, Issue 1, Pages 51–54, ISSN (Print) 1311-0160, DOI: https://doi.org/10.2478/v10034-012-0008-9.

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