Sjogren –Larsson Syndrome: A case series of five members from an extended family with a novel mutation

ConclusionsSLS should be suspected in any patient with a triad of ichthyosis, intellectual disability and spastic di/tetraplegia. Molecular genetic testing of theALDH3A2 gene should be performed to confirm the diagnosis. Extended family screening is highly recommended.

Source: Molecular Genetics & Genomic Medicine - September 14, 2020 Category: Genetics & Stem Cells Authors: Kamel T. Abidi, Naglaa M. Kamal, Ayman A. Bakkar A., Maram Alotaibi, Haifa Asseri, Kawthar A. Bokari Tags: CLINICAL REPORT Source Type: research