A novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis-Reference-Cited by-同舟云学术

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A novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis

Published:2015-07 Issue:3 Volume:24 Page:115-117
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Gürkan Hakan,Fischer Judith,Ulusal Selma,Vatansever Ülfet,Hartmann Britta,Tozkır Hilmi,Schlipf Nina,Acunaş Betül Ayşe

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health

Reference11 articles.

1. Recent advances in the genetics and management of harlequin ichthyosis.;Ahmed;Pediatr Dermatol,2014

2. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotypephenotype correlations and of pathogenetic concepts.;Akiyama;Hum Mutat,2010

3. The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation.;Akiyama;Biochim Biophys Acta,2014

4. Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis.;Castiglia;Clin Genet,2009

5. Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653-5655delTAT, causing harlequin ichthyosis.;Follmann;Gene,2013

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report;Frontiers in Genetics;2021-01-12

2. p53 as a double-edged sword in the progression of non-alcoholic fatty liver disease;Life Sciences;2018-12

3. Genome-Wide Identification, Characterization and Phylogenetic Analysis of ATP-Binding Cassette (ABC) Transporter Genes in Common Carp (Cyprinus carpio);PLOS ONE;2016-04-08

4. Noteworthy clinical findings of harlequin ichthyosis: digital autoamputation caused by cutaneous constriction bands in a case with novelABCA12mutations;British Journal of Dermatology;2015-12-30

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