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Article

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

Clinical dysmorphology - 1 Jul 2015

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

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Identifiers

PMID: 25563821
DOI: 10.1097/MCD.0000000000000071

Genes

ABCA12

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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A novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis.PMID 25563821Read ↗

A novel ABCA12 mutation underlying a case of Harlequin ichthyosis.Semantic proximity Read ↗

Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.Semantic proximity Read ↗

Novel ABCA12 splice site deletion mutation and ABCA12 mRNA analysis of pulled hair samples in harlequin ichthyosis.Semantic proximity Read ↗

Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis.Semantic proximity Read ↗

Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases.Semantic proximity Read ↗

Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.Semantic proximity Read ↗

Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis.Semantic proximity Read ↗

Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma.Semantic proximity Read ↗

Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.Semantic proximity Read ↗

[The role in harlequin ichthyosis of mutations in lipid transporter ABCA12].Semantic proximity Read ↗

Harlequin Ichthyosis - A Case Report.Semantic proximity Read ↗

Harlequin ichthyosis: a novel compound mutation of ABCA12 with prenatal diagnosis.Semantic proximity Read ↗

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