Pathogenic Variants in the ABCA12 Gene Associated to Autosomal Recessive Congenital Ichthyosis: Report of an Attenuated Phenotype
Congenital ichthyosis represents keratinisation disorders characterised by abnormal skin scaling across the entire body, leading to a red, denuded, and scaly appearance. A subgroup of this is the autosomal recessive congenital ichthyosis (ARCI), characterised by a severe phenotype and classified ac...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
European Medical Journal
2024-11-01
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| Series: | European Medical Journal Dermatology |
| Online Access: | https://www.emjreviews.com/dermatology/article/pathogenic-variants-in-the-abca12-gene-associated-to-autosomal-recessive-congenital-ichthyosis-report-of-an-attenuated-phenotype-j030124/ |
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