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Article

Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.

Italian journal of pediatrics - 13 Aug 2022

Serra Gregorio, Memo Luigi, Cavicchioli Paola, Cutrone Mario, Giuffrè Mario, La Torre Maria Laura, Schierz Ingrid Anne Mandy, Corsello Giovanni

Abstract excerpt

BACKGROUND: Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma. They are rare diseases, with overall incidence of 6.7 in 100,000. Clinical manifestations are due to mutations in genes mostly involved in skin barrier formation. Based on clinical presentation, CI is distinguished in...

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Identifiers

PMID: 35964051
DOI: 10.1186/s13052-022-01336-0
PMCID: PMC9375412

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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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