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Journal der Deutschen Dermatologischen Gesellschaft, ISSN 1610-0379, 10/2017, Volume 15, Issue 10, p. 1053
Zusammenfassung Ichthyosen sind seltene genetische Hautkrankheiten, die den Kliniker vor mannigfache Herausforderungen stellen, insbesondere in Bezug auf das... 
Ichthyosis
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2013, Volume 8, Issue 10, pp. e75355 - e75355
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2012, Volume 44, Issue 2, pp. 140 - 147
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 1, pp. 152 - 165
Journal Article
Journal Article
Case Report - Ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome, 12/2006
A 12-year-old boy born of a nonconsanguineous marriage presented with dry rough skin and photophobia since birth. His growth and developmental milestones were... 
Alopecia, Ichthyosis follicularis, Photophobia
Journal
Journal of Dermatological Science, ISSN 0923-1811, 11/2018, Volume 92, Issue 2, pp. 127 - 133
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2017, Volume 100, Issue 6, pp. 926 - 939
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