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Clouston syndrome: first case in Russia.

Authors :
Marakhonov A
Skoblov M
Galkina V
Zinchenko R
Source :
Balkan journal of medical genetics : BJMG [Balkan J Med Genet] 2012 Jun; Vol. 15 (1), pp. 51-4.
Publication Year :
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.

Details

Language :
English
ISSN :
1311-0160
Volume :
15
Issue :
1
Database :
MEDLINE
Journal :
Balkan journal of medical genetics : BJMG
Publication Type :
Report
Accession number :
24052723
Full Text :
https://doi.org/10.2478/v10034-012-0008-9