Novel ABCA-12 mutations leading to recessive congenital ichthyosis

Haley Peterson, Sabra Lofgren, Samuel Bremmer, Alfons Krol

Research output: Contribution to journalArticle

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Abstract

Mutations in the keratinocyte lipid transporter adenosine triphosphate-binding cassette A12 (ABCA12) are known to cause harlequin ichthyosis. More recently, mutations in this gene have been demonstrated to cause other phenotypes within the spectrum of recessive congenital ichthyosis. We report the case of an infant with novel heterozygous mutations in ABCA12 who exhibited features and a clinical course more consistent with congenital ichthyosiform erythroderma than harlequin ichthyosis.

Original languageEnglish (US)
JournalPediatric Dermatology
Volume30
Issue number6
DOIs
Publication statusPublished - Nov 2013

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ASJC Scopus subject areas

  • Dermatology
  • Pediatrics, Perinatology, and Child Health

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