Associated Papers
Diagnostic next generation sequencing in neonatal erythroderma.
Cuperus E et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2021
Sjogren-Larsson Syndrome: Mechanisms and Management.
Bindu PS
The Application of Clinical Genetics, 2020
Genetic assessment of ten Egyptian patients with Sjögren-Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.
Amr K et al.
Archives of Dermatological Research, 2019
Genotype and phenotype variability in Sjögren-Larsson syndrome.
Weustenfeld M et al.
Human Mutation, 2019
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
31832098 (PubMed )
Supplement: 13039_2019_459_MOESM4_ESM.xlsx › Sheet1
Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.
Sarret C et al.
Journal of the Neurological Sciences, 2012
Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion.
Rizzo WB et al.
Archives of Dermatological Research, 2010
Monitoring of fatty aldehyde dehydrogenase by formation of pyrenedecanoic acid from pyrenedecanal.
Keller MA et al.
Journal of Lipid Research, 2010
A novel homozygous missense mutation in the fatty aldehyde dehydrogenase gene causes Sjögren-Larsson syndrome.
Nakano H et al.
Journal of Dermatological Science, 2008
Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.
Rizzo WB
Molecular Genetics and Metabolism, 2007
Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).
Rizzo WB et al.
Human Mutation, 2005
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