Associated Papers
Genetic investigations of autosomal recessive inherited ichthyosis impressed by fetal ultrasound: Exome sequencing and haplotype linkage analysis.
Chang TY et al.
Taiwanese Journal of Obstetrics & Gynecology, 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
Juvenile idiopathic arthritis in Harlequin ichthyosis, a rare combination or the clinical spectrum of the disease? Report of a child treated with etanercept and review of the literature.
Baldo F et al.
Pediatric Rheumatology Online Journal, 2021
Juvenile idiopathic arthritis in infants with Harlequin Ichthyosis: two cases report and literature review.
Auriti C et al.
Italian Journal of Pediatrics, 2020
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
Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation.
Cho Y et al.
Scientific Reports, 2017
Three-dimensional ultrasound prenatal diagnosis of congenital ichthyosis: contribution of molecular biology.
Tourette C et al.
Prenatal Diagnosis, 2012
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
Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis.
Akiyama M et al.
Dermatology (basel, Switzerland), 2007
Recent advances in the genetics and management of harlequin ichthyosis.
Ahmed H et al.
Pediatric Dermatology, 0
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