Back to Search
Start Over
Clouston syndrome: first case in Russia.
- 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