Clinical, biochemical, and genetic aspects of Sjögren‐Larsson syndrome

KH Cho, SH Shim, M Kim - Clinical genetics, 2018 - Wiley Online Library
Sjögren‐Larsson syndrome (SLS) is caused by an autosomal recessive mutation in
ALDH3A2, which encodes the fatty aldehyde dehydrogenase responsible for the …

Genotype and phenotype variability in Sjögren‐Larsson syndrome

M Weustenfeld, R Eidelpes, M Schmuth… - Human …, 2019 - Wiley Online Library
Abstract The Sjögren–Larsson syndrome (SLS) is a rare autosomal recessive disorder
caused by pathogenic variants in the ALDH3A2 gene, which codes for fatty aldehyde …

[HTML][HTML] Repression of the expression of proinflammatory genes by mitochondrial transcription factor A is linked to its alternative splicing regulation in human lung …

J Luo, H Liu, DKJ Li, B Song, Y Zhang - BMC immunology, 2021 - Springer
Background Mitochondrial transcription factor A (TFAM) is associated with a number of
neurodegenerative diseases and also with asthma. TFAM deficiency-induced mitochondrial …

Genetic assessment of ten Egyptian patients with Sjögren–Larsson syndrome: Expanding the clinical spectrum and reporting a novel ALDH3A2 mutation

K Amr, HT El-Bassyouni, S Ismail, E Youness… - Archives of …, 2019 - Springer
Assessment of ten Egyptian patients with Sjögren–Larsson syndrome (SLS) detected;
unusual clinical manifestations, a first report of brain atrophy in SLS, some patients exhibited …

Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran

A Kariminejad, M Barzgar, B Bozorgmehr… - European journal of …, 2018 - Elsevier
Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by
ichthyosis, spasticity and intellectual disability. The disease is caused by mutations in the …

[PDF][PDF] Sjögren-Larsson Syndrome: A Rare Presentation With Developmental Delay

MD Waheed, S Batool, SS Holder, YR Reyes… - Cureus, 2023 - cureus.com
Sjögren-Larsson syndrome (SLS) is a rare, inherited disorder passed down through families
in an autosomal recessive pattern. Its main characteristics are spastic diplegic paralysis …

[PDF][PDF] Sjögren-Larsson Syndrome: A Rare Presentation With Developmental Delay

KJ Srilakshmi, MD Waheed, S Batool, SS Holder… - Cureus, 2023 - assets.cureus.com
Sjögren-Larsson syndrome (SLS) is a rare, inherited disorder passed down through families
in an autosomal recessive pattern. Its main characteristics are spastic diplegic paralysis …

Investigation of Inherited Causes of Sjogren-Larsson Syndrome Using Whole Exome Sequencing Method

A Hassanzadeh, A Jannatabadi… - Journal of Sabzevar …, 2021 - jsums.medsab.ac.ir
Introduction: Sjogren-Larsson Syndrome (SLS) is a recurrent autosomal recessive disorder
characterized by three main symptoms including ichthyosis, mental retardation, dysplasia, or …

Sjögren-Larsson syndrome. Pathogenic variant analysis of ALDH3A2 gene in six Iranian families.

S Ahmadi, E Davoudi-Dehaghani… - … Journal of Pediatric …, 2019 - search.ebscohost.com
Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder. The actual study is
aimed at performing pathogenic variant analysis of ALDH3A2 gene in Iranian patients with …