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 describe the first case of Clouston syndrome in Russia and the molecular genetic analysis of this case.
Laboratory of Genetic Epidemiology, Federal State Budgetary Institution "Research Centre for Medical Genetics" under the Russian Academy of Medical Sciences, Moscow, Russian Federation.
Av
A
Marakhonov
Myu
M
Skoblov
Va
V
Galkina
Ra
R
Zinchenko
Clouston syndrome; Cx30; GJB6; Hidrotic ectodermal dysplasia type 2 (HED2)