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

Kamel T Abidi Naglaa M KamalAyman A Bakkar AMaram AlotaibiHaifa AsseriKawthar A Bokari

Published in: Molecular genetics & genomic medicine (2020)

SLS should be suspected in any patient with a triad of ichthyosis, intellectual disability and spastic di/tetraplegia. Molecular genetic testing of the ALDH3A2 gene should be performed to confirm the diagnosis. Extended family screening is highly recommended.

Keyphrases

intellectual disability
autism spectrum disorder
case report
copy number
cerebral palsy
biofilm formation
single molecule
gene expression
pseudomonas aeruginosa
cystic fibrosis
genome wide analysis