Ontology highlight
ABSTRACT:
SUBMITTER: Abidi KT
PROVIDER: S-EPMC7667322 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
Abidi Kamel T KT Kamal Naglaa M NM Bakkar A Ayman A AA Alotaibi Maram M Asseri Haifa H Bokari Kawthar A KA
Molecular genetics & genomic medicine 20200915 11
<h4>Backgroundd</h4>Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive disorder, characterized by a triad of spastic tetraplegia or diplegia, congenital ichthyosis, and intellectual disability.<h4>Methods</h4>We report a seven-years-old female born to consanguineous parents who presented with erythematous dry scaly skin all over the body sparing the face, without collodion membrane which started since birth. There were associated with global developmental delay and seizure disorder. SL ...[more]