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References OMIM Gene GeneReviews HGMD HGNC
last update : 02-11-2009
Symbol NCIE4
Location 2q35
Name ichthyosiform erythroderma, congenital, nonbullous, 4
Corresponding gene ABCA12
Main clinical features characterized by ichthyosis in an erythema background with fine white scaling, collodion babies at birth, liver steatosis with hepatomegaly lipid droplets in granulocytes and in most tissues
Genetic determination autosomal recessive
Function/system disorder dermatology
Type disease