Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Prabodh ch Mondal"'
Publikováno v:
International Journal of Medical Research and Health Sciences, Vol 5, Iss 1, Pp 105-106 (2016)
Harlequin ichthyosis is the most severe form of congenital ichthyosis. It is a rare autosomal recessive disorder (1:300,000). The vast majority of affected individuals are due to mutation in the ABCA12 gene, which cause a deficiency of the epidermal