Associated Papers
Protean cutaneous manifestation caused by ABCA12 variants: erythrokeratodermia variabilis-like ichthyosis and unique palmoplantar keratoderma.
Chang CY et al.
Clinical and Experimental Dermatology, 2025
Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.
Liu JW et al.
Molecular Genetics & Genomic Medicine, 2024
38702946 (PubMed )
Supplement: MGG3-12-e2431-s001.docx
The Added Value of Whole-Exome Sequencing for Anomalous Fetuses With Detailed Prenatal Ultrasound and Postnatal Phenotype.
He M et al.
Frontiers in Genetics, 2021
A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.
Montalván-Suárez M et al.
Molecular Genetics & Genomic Medicine, 2019
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