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Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient
INTRODUCTION: Congenital ichthyosiform erythroderma (CIE ) is characterized by fine, whitish scales on a background of erythematous skin over the whole body; it is reportedly caused by mutations in ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, PNPLA1, and TGM1 genes. CASE PRESENTATION: A 15‐month...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7331307/ https://www.ncbi.nlm.nih.gov/pubmed/32851342 http://dx.doi.org/10.1002/ped4.12182 |