<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>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.</p></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.

Clouston Syndrome: First Case in Russia

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

Balkan Journal of Medical Genetics

{"article-title":"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...

Clouston Syndrome: First Case in Russia

Pubblicato online: 20 lug 2012

Pagine: 51 - 54

DOI: https://doi.org/10.2478/v10034-012-0008-9

Parole chiave
Clouston syndrome, Cx30, Hidrotic ectodermal dysplasia type 2 (HED2)

This content is open access.

Clouston Syndrome: First Case in Russia

Pubblicato online: 20 lug 2012

Pagine: 51 - 54

DOI: https://doi.org/10.2478/v10034-012-0008-9

Parole chiaveClouston syndrome, Cx30, Hidrotic ectodermal dysplasia type 2 (HED2)

This content is open access.

Parole chiave
Clouston syndrome, Cx30, Hidrotic ectodermal dysplasia type 2 (HED2)