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Article

Harlequin ichthyosis: a novel compound mutation of ABCA12 with prenatal diagnosis.

Clinical and experimental dermatology - 1 Aug 2016

Xie H, Xie Y, Peng R, Li L, Zhu Y, Guo J

Abstract excerpt

Harlequin ichthyosis (HI) is the most severe form of recessive congenital ichthyosis, and is frequently lethal. We describe a family with prenatal diagnosis of HI in two siblings. We applied genomic capture and massively parallel sequencing to detect all mutations in 20 genes, including ABCA12, with inherited mutations that predispose to congenital ichthyosis. Sequence analysis of the ABCA12 gene identified two...

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Source

Identifiers

PMID: 27381714
DOI: 10.1111/ced.12861

Genes

ABCA12

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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