Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: The underlying genetic defects and pathomechanisms

Journal of Dermatological Science

Volumn 42, Issue 2, 2006, Pages 83-89

  Akiyama, Masashi ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

ABCA12; Harlequin ichthyosis; Lamellar granules; Lamellar ichthyosis; Non bullous congenital ichthyosiform erythroderma; Prenatal diagnosis

Indexed keywords

ICHTHYIN; LIPID TRANSFER PROTEIN; LIPOXYGENASE; PROTEIN; PROTEIN ABCA12; PROTEIN ALOX12B; PROTEIN ALOXE3; TRANSGLUTAMINASE 1; UNCLASSIFIED DRUG;

AMNION FLUID ANALYSIS; ANGIOOSTEOHYPERTROPHY SYNDROME; AUTOSOMAL RECESSIVE DISORDER; CELL MEMBRANE; CHORION VILLUS SAMPLING; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; DISEASE SEVERITY; DNA DETERMINATION; ENZYME DEFICIENCY; GENE DELETION; GENE FUNCTION; GENE IDENTIFICATION; GENE INSERTION; GENE LOCUS; GENE LOSS; GENE MUTATION; GENETIC COUNSELING; GENETIC RISK; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERKERATOSIS; KERATINOCYTE; LAMELLAR BODY; LAMELLAR ICHTHYOSIS; LIPID BILAYER; LIPID TRANSPORT; MISSENSE MUTATION; PATHOPHYSIOLOGY; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN FUNCTION; QUALITY OF LIFE; REVIEW; SJOEGREN LARSSON SYNDROME; STRATUM CORNEUM; TRANSGLUTAMINASE 1 DEFICIENCY;

ARACHIDONATE 12-LIPOXYGENASE; ATP-BINDING CASSETTE TRANSPORTERS; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; ICHTHYOSIS, LAMELLAR; LIPOXYGENASE; MODELS, BIOLOGICAL; PRENATAL DIAGNOSIS; RECEPTORS, CELL SURFACE; TRANSGLUTAMINASES;

EID: 33646054123     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2006.01.003     Document Type: Review

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