Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis.

Abstract excerpt

Harlequin ichthyosis (HI) is the most severe form of autosomal recessive congenital ichthyosis, presenting at birth with distinctive facial features and thick, plate-like scales over the entire body. The abnormal skin barrier predisposes the patient to multiple complications, including dehydration and sepsis. Mortality rates of babies with HI have been greatly reduced since the introduction of systemic retinoid...

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