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Journal of Clinical Investigation, ISSN 0021-9738, 07/2005, Volume 115, Issue 7, pp. 1777 - 1784
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2016, Volume 11, Issue 8, pp. e0161465 - e0161465
Harlequin Ichthyosis is a severe skin disease caused by mutations in the human gene encoding ABCA12. Here, we characterize a novel mutation in intron 29 of the... 
SPHINGOLIPID METABOLISM | TRANSPORTER ABCA12 | GENE | MULTIDISCIPLINARY SCIENCES | GOLGI-APPARATUS | LAMELLAR GRANULES | EPIDERMAL-KERATINOCYTES | MICE | TERMINAL DIFFERENTIATION | MUTATIONS | PERMEABILITY BARRIER | Exons | Skin - metabolism | Ichthyosis, Lamellar - therapy | ATP-Binding Cassette Transporters - genetics | Base Sequence | Skin Transplantation | Skin - pathology | Disease Models, Animal | Desmosomes - metabolism | Epidermis - metabolism | Epidermis - pathology | Ceramides - metabolism | Chromosome Mapping | Permeability | Genes, Recessive | Sequence Analysis, DNA | Phenotype | Animals | Epidermis - ultrastructure | Ichthyosis, Lamellar - genetics | Keratinocytes - metabolism | Models, Biological | Alleles | Skin - ultrastructure | Mice | Mutation | Glucosylceramides - metabolism | Kallikreins - metabolism | Ichthyosis, Lamellar - pathology | Gene mutations | Physiological aspects | Genetic aspects | Skin | Research | Risk factors | Ichthyosis | Neonates | Animal models | Calcium | Transcription | Veterans | Lamellae | Lipids | Defects | Ceramide glucosyltransferase | Metabolites | Proteolysis | Ceramide | Skin diseases | Enzymes | Congenital diseases | Stratum corneum | Dermatology | Intracellular levels | Secretion | Proteolytic enzymes | Kallikrein | Keratinocytes | Cell division | Epidermis | Metabolism | Ribonucleic acid--RNA | Mutants | Medicine | Pathology | Hypotheses | Index Medicus | RNA | Ribonucleic acid
Journal Article
Journal Article
Archives of Disease in Childhood - Fetal and Neonatal Edition, ISSN 1359-2998, 11/2017, Volume 102, Issue 6, pp. F542 - F542
The newborn was prudentially managed as a classical (ie, whole-body) collodion baby: he was weighed twice daily, put on strict temperature control, and had... 
neonatology | dermatology | PEDIATRICS | Male | Ichthyosis, Lamellar - diagnosis | Humans | Ichthyosis, Lamellar - therapy | Infant, Newborn | Skin - pathology | Mutation | Index Medicus | Abridged Index Medicus
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2012, Volume 44, Issue 2, pp. 140 - 147
Journal Article
Dermatology (Actas Dermo-Sifiliográficas, English Edition), ISSN 1578-2190, 2011, Volume 104, Issue 4, pp. 270 - 284
Journal Article
Journal Article
Pediatric Dermatology, ISSN 0736-8046, 03/2014, Volume 31, Issue 2, pp. e63 - e64
A case of harlequin ichthyosis with compound heterozygous mutations in ABCA12 was successfully managed with intensive neonatal care and endotracheal intubation... 
IMPROVEMENT | PEDIATRICS | DERMATOLOGY | ATP-Binding Cassette Transporters - genetics | Ichthyosis, Lamellar - genetics | Humans | Ichthyosis, Lamellar - therapy | Male | Mutation | Infant, Newborn | Infants (Newborn) | Genetic aspects | Ichthyosis | Index Medicus
Journal Article
Journal Article
Dermatology Online Journal, ISSN 1087-2108, 2005, Volume 11, Issue 4, pp. 13 - 13
A 6-year-old African boy with a history of a collodion membrane presented with scale in a generalized distribution and flexural accentuation. Large, brown,... 
Humans | Ichthyosis, Lamellar - therapy | Male | Child | Ichthyosis, Lamellar - diagnosis | Skin - pathology | Ichthyosis, Lamellar - pathology | Index Medicus
Journal Article
Arkhiv patologii, ISSN 0004-1955, 03/2015, Volume 77, Issue 2, p. 39
The paper describes a skin morphological examination using an immunohistochemical study (Ki-67, cytokeratin (CK) 5/6, and CK LMW) in a dead 4-month-old girl... 
Keratins - biosynthesis | Humans | Ichthyosis, Lamellar - therapy | Fatal Outcome | Female | Infant | Ichthyosis, Lamellar - metabolism | Skin - pathology | Ichthyosis, Lamellar - pathology
Journal Article