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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...
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| Publicado no: | Pediatr Investig |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7331307/ https://ncbi.nlm.nih.gov/pubmed/32851342 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ped4.12182 |
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