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Article

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.

Human mutation - 1 Oct 2018

Hotz Alrun, Bourrat Emmanuelle, Küsel Julia, Oji Vinzenz, Alter Svenja, Hake Lisanne, Korbi Mouna, Ott Hagen, Hausser Ingrid, Zimmer Andreas D, Fischer Judith

Abstract excerpt

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare disorders of keratinization characterized by generalized abnormal scaling of the skin. Ten genes are currently known to be associated with ARCI: TGM1, ALOXE3, ALOX12B, NIPAL4 (ICHTHYIN), ABCA12, CYP4F22, PNPLA1, CERS3, SDR9C7, and SULT2B1. Over a period of 22 years, we have studied a large patient cohort from 770 families with a...

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Source

Identifiers

PMID: 30011118
DOI: 10.1002/humu.23594

Genes

ABCA12
ALOXE3
CERS3
NIPAL4
PNPLA1
TGM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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