Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient
ABSTRACT 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 1...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2020-03-01
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| Series: | Pediatric Investigation |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ped4.12182 |