Work

Novel homozygous pathogenic AP1B1 variant in autosomal recessive keratitis-ichthyosis-deafness syndrome treated with acitretin

Year: 2025

Type: article

Study design: Case Report

Source: BMJ Case Reports

DOI: 10.1136/bcr-2025-269396

Authors: David G Caetano, Francisco Martins, João Soares, Leonor C Ramos

Institution: Unidade Local de Saúde de Coimbra

Language: English

Topic: Genetic and rare skin diseases.

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W7117308300

FWCI: 0.55

Cites: 12

Cited by: 1

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