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[Sjögren-Larsson syndrome: a novel mutation in a Moroccan child].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Nov 2008

Rafai M A, Boulaajaj F Z, Seito A, Suga Y, Slassi I, Fadel H

Abstract excerpt

Sjögren-Larsson syndrome is a very rare inherited neurocutaneous disorder caused by a deficiency of microsomal enzyme fatty aldehyde dehydrogenase (FALDH). The authors report a case of typical Sjögren-Larsson syndrome in a 7-year-old Moroccan child who presented with classical symptoms (congenital ichthyosis, mental retardation, and spastic paraparesis) and epilepsy. The genetic study revealed a new mutation in...

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Identifiers

PMID: 18951768
DOI: 10.1016/j.arcped.2008.07.022

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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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