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Article

Autosomal recessive ALOX12B gene and consecutive collodion baby.

BMJ case reports - 21 Mar 2024

Thakur Krishma, Sehgal Alka, Goel Bharti, Chaudhary Madhu

Abstract excerpt

Autosomal recessive congenital ichthyosis is a type of inherited ichthyosis which is a rare cluster of genetic disorders leading to defective keratinisation. The combined prevalence for lamellar ichthyosis and congenital ichthyosiform erythroderma is almost 1 per 200 000-300 000 people. Among all the mutations in this gene, missense and frameshift mutations are most common which account for 80% of the cases. Our...

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Source

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Identifiers

PMID: 38514164
DOI: 10.1136/bcr-2023-257608
PMCID: PMC10961509

Genes

ALOX12B

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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