Article
Sjogren-Larsson Syndrome: A case series of five members from an extended family with a novel mutation.
Molecular genetics & genomic medicine - 1 Nov 2020
Abidi Kamel T, Kamal Naglaa M, Bakkar A Ayman A, Alotaibi Maram, Asseri Haifa, Bokari Kawthar A
Abstract excerpt
BACKGROUNDD: Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive disorder, characterized by a triad of spastic tetraplegia or diplegia, congenital ichthyosis, and intellectual disability. METHODS: 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...
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