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Dermatology (Actas Dermo-Sifiliográficas, English Edition), ISSN 1578-2190, 2011, Volume 104, Issue 4, pp. 270 - 284
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2017, Volume 100, Issue 6, pp. 926 - 939
Journal Article
Journal of the American Academy of Dermatology, ISSN 0190-9622, 2018
Background: Autosomal recessive congenital ichthyosis (ARCI) and ichthyosis syndrome (IS) are rare genetic skin disorders. Objective: To estimate the number of... 
epidemiology | nonbullous congenital ichthyosiform erythroderma | ichthyosis syndrome | nationwide survey | harlequin ichthyosis | congenital ichthyosiform erythroderma | lamellar ichthyosis | autosomal recessive congenital ichthyosis
Journal Article
Journal of Dermatological Science, ISSN 0923-1811, 01/2019, Volume 93, Issue 1, pp. 50 - 57
Autosomal Recessive Congenital Ichthyosis (ARCI) is a group of epidermal keratinization disorders. One of the disease-associated proteins, patatin-like... 
Autosomal Recessive Congenital Ichthyosis (ARCI) | Patatin-like phospholipase domain-containing protein-1 (PNPLA1) | Lipophagy | Lipid droplets | Autophagy | FORM | OMEGA-O-ACYLCERAMIDE | ALOX12B | IDENTIFICATION | DERMATOLOGY | GENE | DOMAIN-CONTAINING PROTEIN-1 | MICE | Albumin | Genetic aspects | Genetic disorders | Phospholipases | Analysis | Ichthyosis
Journal Article
Revista Romana de Medicina de Laborator, ISSN 1841-6624, 12/2016, Volume 24, Issue 4, pp. 387 - 398
Autosomal recessive congenital ichthyosis is a non-syndromic ichthyosis, with a genetic background of mutations in 9 genes. This case series presents clinical... 
NIPAL4 mutation | electron microscopy | transglutaminase 1 | autosomal recessive congenital ichthyosis | MEDICINE, RESEARCH & EXPERIMENTAL | CLINICAL SPECTRUM | ERYTHRODERMA | ALOX12B | LAMELLAR ICHTHYOSIS | EPIDERMIS | GENES | TRANSGLUTAMINASE-1 | EXPRESSION | ALOXE3
Journal Article
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 1, pp. 152 - 165
Journal Article