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

Abstract

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 ALDH3A2 gene that encodes fatty aldehyde dehydrogenase. We describe 7 Iranian SLS patients from 5 unrelated consanguineous families. Sequencing of ALDH3A2 identified 4 novel… (More)
DOI: 10.1016/j.ejmg.2017.11.006

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