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 …
characterized by three main symptoms including ichthyosis, mental retardation, dysplasia, or …
Sjogren–Larsson Syndrome: A case series of five members from an extended family with a novel mutation
Abstract Backgroundd Sjogren–Larsson syndrome (SLS) is a rare autosomal recessive
disorder, characterized by a triad of spastic tetraplegia or diplegia, congenital ichthyosis …
disorder, characterized by a triad of spastic tetraplegia or diplegia, congenital ichthyosis …
[PDF][PDF] Clinical and Molecular Aspects of Sjogren-Larsson Syndrome Reported in an Iranian Consanguineous Family with Triplet Affected Individuals
M Hosseini, M Garshasbi, S Hemmati… - Iranian Red Crescent …, 2012 - Citeseer
Abstract Background: Sjogren Larsson Syndrome (SLS; OMIM: 270200) is an autosomal
recessive neurocutaneous disorder characterized by mental retardation, congenital …
recessive neurocutaneous disorder characterized by mental retardation, congenital …
[HTML][HTML] Sjögren Larsson syndrome: A case study with unique mutation
R Albaradie, D Aljamea, DN Baig, S Bashir - Brain Disorders, 2024 - Elsevier
Abstract Background Sjogren–Larsson syndrome (SLS) is an autosomal recessive disorder
characterized by the triad of ichthyosis, intellectual disability, and spastic quadriplegia or …
characterized by the triad of ichthyosis, intellectual disability, and spastic quadriplegia or …
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 …
ichthyosis, spasticity and intellectual disability. The disease is caused by mutations in the …
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 …
unusual clinical manifestations, a first report of brain atrophy in SLS, some patients exhibited …
[HTML][HTML] Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome
M Taghdiri, A Kashef, M Fardaei… - Clinical case …, 2018 - ncbi.nlm.nih.gov
Background Sjögren–Larsson syndrome (SLS) is an autosomal recessive neuroichthyosis
caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2) gene …
caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2) gene …
Sjögren–Larsson syndrome: Novel mutations in the ALDH3A2 gene in a French cohort
C Sarret, M Rigal, C Vaurs-Barrière, I Dorboz… - Journal of the …, 2012 - Elsevier
Sjogren–Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by
ichthyosis, spastic di-or tetraplegia and mental retardation due a defect of the fatty aldehyde …
ichthyosis, spastic di-or tetraplegia and mental retardation due a defect of the fatty aldehyde …
Phenotypic and mutational spectrum of thirty-five patients with Sjögren–Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects
MS Abdel-Hamid, MY Issa, HM Elbendary… - Journal of Human …, 2019 - nature.com
Sjögren–Larsson syndrome (SLS) is a rare neurocutaneous disorder characterized by
congenital ichthyosis, spastic diplegia and intellectual disability. It is an inborn error of lipid …
congenital ichthyosis, spastic diplegia and intellectual disability. It is an inborn error of lipid …
Estimated Incidence of Sjögren-Larsson Syndrome Using Bioinformatics Databases and Software Prediction Programs
E Kassing, E Siefker, WB Rizzo - 2021 - digitalcommons.unmc.edu
Background: Sjögren-Larsson Syndrome (SLS) is a rare autosomal recessive disease
characterized by ichthyosis, neurological retardation, spastic diplegia and a distinctive …
characterized by ichthyosis, neurological retardation, spastic diplegia and a distinctive …
相关搜索
- aldh3a2 mutations larsson syndrome
- inherited causes sjogren larsson
- iranian family larsson syndrome
- founder effects larsson syndrome
- bioinformatics databases sjögren larsson
- estimated incidence sjögren larsson
- genetic assessment larsson syndrome
- french cohort larsson syndrome
- italian patients larsson syndrome
- clinical spectrum larsson syndrome
- aldh3a2 gene larsson syndrome
- mutational spectrum larsson syndrome
- extended family larsson syndrome
- egyptian patients larsson syndrome