Clouston Syndrome: First Case in Russia

A Marakhonov; M Skoblov; V Galkina; R Zinchenko

doi:10.2478/v10034-012-0008-9

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Clouston Syndrome: First Case in Russia

Balkan Journal of Medical Genetics

Volume 15 (2012): Issue 1 (June 2012)

By: A Marakhonov, M Skoblov, V Galkina and R Zinchenko

Open Access

|Jul 2012

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.

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Articles in this issue

DOI: https://doi.org/10.2478/v10034-012-0008-9 | Journal eISSN: 2199-5761 | Journal ISSN: 1311-0160

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Language: English

Page range: 51 - 54

Published on: Jul 20, 2012

Published by: Macedonian Academy of Sciences and Arts

In partnership with: Paradigm Publishing Services

Publication frequency: 2 issues per year

Keywords:

Clouston syndrome,

Cx30,

GJB6,

Hidrotic ectodermal dysplasia type 2 (HED2)

Related subjects:

Medicine,

Basic medical science,

Basic medical science, other

© 2012 A Marakhonov, M Skoblov, V Galkina, R Zinchenko, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.

Volume 15 (2012): Issue 1 (June 2012)