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 desc...

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Autores principales: Marakhonov, AV, Skoblov, MYu, Galkina, VA, Zinchenko, RA
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Macedonian Science of Sciences and Arts 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776650/
https://www.ncbi.nlm.nih.gov/pubmed/24052723
http://dx.doi.org/10.2478/v10034-012-0008-9
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author Marakhonov, AV
Skoblov, MYu
Galkina, VA
Zinchenko, RA
author_facet Marakhonov, AV
Skoblov, MYu
Galkina, VA
Zinchenko, RA
author_sort Marakhonov, AV
collection PubMed
description 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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spelling pubmed-37766502013-09-19 Clouston Syndrome: First Case in Russia Marakhonov, AV Skoblov, MYu Galkina, VA Zinchenko, RA Balkan J Med Genet Case Report 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. Macedonian Science of Sciences and Arts 2012-06 2012-07-20 /pmc/articles/PMC3776650/ /pubmed/24052723 http://dx.doi.org/10.2478/v10034-012-0008-9 Text en © Macedonian Academy of Sciences and Arts This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivs license (http://creativecommons.org/licenses/by-nc-nd/3.0/), which means that the text may be used for non-commercial purposes, provided credit is given to the author.
spellingShingle Case Report
Marakhonov, AV
Skoblov, MYu
Galkina, VA
Zinchenko, RA
Clouston Syndrome: First Case in Russia
title Clouston Syndrome: First Case in Russia
title_full Clouston Syndrome: First Case in Russia
title_fullStr Clouston Syndrome: First Case in Russia
title_full_unstemmed Clouston Syndrome: First Case in Russia
title_short Clouston Syndrome: First Case in Russia
title_sort clouston syndrome: first case in russia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776650/
https://www.ncbi.nlm.nih.gov/pubmed/24052723
http://dx.doi.org/10.2478/v10034-012-0008-9
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AT skoblovmyu cloustonsyndromefirstcaseinrussia
AT galkinava cloustonsyndromefirstcaseinrussia
AT zinchenkora cloustonsyndromefirstcaseinrussia

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