Improving outcomes for harlequin ichthyosis

[1] Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma [J]. BRITISH JOURNAL OF DERMATOLOGY, 2008, 158 (04) : 864 - 867

[2] Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer [J]. JOURNAL OF CLINICAL INVESTIGATION, 2005, 115 (07) : 1777 - 1784

[3] ABCA12 Mutations and Autosomal Recessive Congenital Ichthyosis: A Review of Genotype/Phenotype Correlations and of Pathogenetic Concepts [J]. HUMAN MUTATION, 2010, 31 (10) : 1090 - 1096

[4] HARLEQUIN ICHTHYOSIS WITH EPIDERMAL LIPID ABNORMALITY [J]. ARCHIVES OF DERMATOLOGY, 1979, 115 (02) : 189 - 193

[5] Systemic retinoids in the management of ichthyoses and related skin types [J]. DERMATOLOGIC THERAPY, 2013, 26 (01) : 26 - 38

[6] TOPICAL ADMINISTRATION OF VITAMIN A ACID FOR ICHTHYOSIFORM DERMATOSES AND PSORIASIS [J]. JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1969, 207 (10): : 1863 - &

[7] Kelsell DP, 2005, AM J HUM GENET, V76, P794

[8] Koochek A, PEDIAT DERM IN PRESS

[9] LAWLOR F, 1985, BRIT J DERMATOL, V112, P585

[10] Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2 [J]. HUMAN MOLECULAR GENETICS, 2003, 12 (18) : 2369 - 2378

[1] Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma [J]. BRITISH JOURNAL OF DERMATOLOGY, 2008, 158 (04) : 864 - 867

[2] Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer [J]. JOURNAL OF CLINICAL INVESTIGATION, 2005, 115 (07) : 1777 - 1784

[3] ABCA12 Mutations and Autosomal Recessive Congenital Ichthyosis: A Review of Genotype/Phenotype Correlations and of Pathogenetic Concepts [J]. HUMAN MUTATION, 2010, 31 (10) : 1090 - 1096

[4] HARLEQUIN ICHTHYOSIS WITH EPIDERMAL LIPID ABNORMALITY [J]. ARCHIVES OF DERMATOLOGY, 1979, 115 (02) : 189 - 193

[5] Systemic retinoids in the management of ichthyoses and related skin types [J]. DERMATOLOGIC THERAPY, 2013, 26 (01) : 26 - 38

[6] TOPICAL ADMINISTRATION OF VITAMIN A ACID FOR ICHTHYOSIFORM DERMATOSES AND PSORIASIS [J]. JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1969, 207 (10): : 1863 - &

[7] Kelsell DP, 2005, AM J HUM GENET, V76, P794

[8] Koochek A, PEDIAT DERM IN PRESS

[9] LAWLOR F, 1985, BRIT J DERMATOL, V112, P585

[10] Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2 [J]. HUMAN MOLECULAR GENETICS, 2003, 12 (18) : 2369 - 2378