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Article

Sjögren-Larsson syndrome: phenotypic variability in two brothers with a neurocutaneous disorder.

Acta neurologica Belgica - 1 Jun 2012

Losito Luciana, Gennaro Leonarda, De Rinaldis Marta, Cacudi Marilena, Trabacca Antonio

Abstract excerpt

Sjögren-Larsson syndrome (SLS) is a rare autosomal recessively inherited neurocutaneous disorder caused by mutations in the ALDH3A2 gene that encodes fatty aldehyde dehydrogenase, an enzyme that catalyzes the oxidation of fatty aldehyde to fatty acid. It is characterized by an unusual combination of cutaneous and neurologic signs and symptoms. The authors describe two brothers of consanguineous parents with SLS,...

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Identifiers

PMID: 22426667
DOI: 10.1007/s13760-012-0035-z

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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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