Browsing Theses by Author "Rajpopat, Shefali"
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Harlequin ichthyosis and ABCA12
Rajpopat, Shefali (2012)Harlequin ichthyosis (HI), a rare severe form of congenital ichthyosis is caused by recessive mutations in the ABCA12 gene. At birth, affected neonates have widespread, grossly thickened skin, separated by deep red fissures, ...