Associated Papers
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
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.
Hotz A et al.
Genes, 2023
Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report.
Liu J et al.
Frontiers in Genetics, 2020
A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis.
Walsh DM et al.
Scientifica, 2012
ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.
Akiyama M
Human Mutation, 2010
Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.
Thomas AC et al.
The British Journal of Dermatology, 2008
Recent advances in the genetics and management of harlequin ichthyosis.
Ahmed H et al.
Pediatric Dermatology, 0
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