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
Long-term survival of harlequin ichthyosis in two siblings with novel ABCA12 mutations.
Niu X et al.
International Journal of Dermatology, 2023
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
[Harlequin ichthyosis with a diaphragmatic hernia and a new mutation].
Andersen LHJ et al.
Ugeskrift for Laeger, 2018
A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis.
Walsh DM et al.
Scientifica, 2012
24278723 (PubMed )
Supplement: 649090.f1.pdf
ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.
Akiyama M
Human Mutation, 2010
DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences.
Akiyama M et al.
The Journal of Investigative Dermatology, 2007
Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis.
Akiyama M et al.
Dermatology (basel, Switzerland), 2007
A novel ABCA12 mutation 3270delT causes harlequin ichthyosis.
Akiyama M et al.
The British Journal of Dermatology, 2006
Novel ABCA-12 mutations leading to recessive congenital ichthyosis.
Peterson H et al.
Pediatric Dermatology, 0
Recent advances in the genetics and management of harlequin ichthyosis.
Ahmed H et al.
Pediatric Dermatology, 0
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