Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653–5655delTAT, causing harlequin ichthyosis
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference18 articles.
1. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenic concepts;Akiyama;Hum. Mutat.,2010
2. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer;Akiyama;J. Clin. Invest.,2005
3. Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity;Akiyama;J. Invest. Dermatol.,2006
4. DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences;Akiyama;J. Invest. Dermatol.,2006
5. Prenatal diagnosis of congenital harlequin ichthyosis with 2D, 3D and 4D ultrasonography;Basgul;Clin. Exp. Obstet. Gynecol.,2011
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1. Prenatal Diagnosis of Harlequin Ichthyosis: A Case Report;Maternal-Fetal Medicine;2020-08-12
2. Prenatal sonographic diagnosis of Harlequin ichthyosis;Journal of Clinical Ultrasound;2018-12-03
3. Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis;PLOS ONE;2016-08-23
4. Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan;Pediatrics International;2015-07-14
5. A novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis;Clinical Dysmorphology;2015-07
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