Pathogenic Variants in the ABCA12 Gene Associated to Autosomal Recessive Congenital Ichthyosis: Report of an Attenuated Phenotype

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: Gabriela Mantilla Beltrán, Ana María Navarro Pinilla, Diego Andrés Padilla Mantilla, Alfonso Suárez Camacho, Mónica Paola Novoa Candia
Format: Article
Language:English
Published: European Medical Journal 2024-11-01
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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