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Article

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

International journal of dermatology - 1 Apr 2018

Sheth Jayesh J, Bhavsar Riddhi, Patel Dhairya, Joshi Aishwarya, Sheth Frenny J

Abstract excerpt

BACKGROUND: Harlequin ichthyosis (HI) is a severe genetic disorder caused by the mutation in the ABCA12 gene. Infants born with this condition have markedly thickened, hard stratum corneum skin all over the body. METHODS: A female child born with a thick white plate of skin with deep cracks all over the body was investigated for genes associated with congenital Ichthyosis by Next Generation sequencing. The...

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Source

Identifiers

PMID: 29377090
DOI: 10.1111/ijd.13923

Genes

ABCA12

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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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Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis.PMID 29377090Read ↗

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