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
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
ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications.
Esperón-Moldes U et al.
Journal of Dermatological Science, 2018
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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
20672373 (PubMed )
Supplement: supplement_1.pdf
DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences.
Akiyama M et al.
The Journal of Investigative Dermatology, 2007
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