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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Detalles Bibliográficos
Autores principales: Yang, Zhou, Qi, Zhan, Xu, Zhe, Li, Wei, Ma, Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Report
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

Internet

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

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