research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes 15 citations , October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Sjogren-Larsson Syndrome 8 citations , November 2009 in “The Neurologist/The neurologist” If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research Incomplete Sjögren-Larsson Syndrome in Two Japanese Siblings? 1 citations , January 1999 in “Dermatology”
research Inherited ichthyosis: Syndromic forms 47 citations , March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research The Ichthyoses: A Guide to Clinical Diagnosis, Genetic Counseling and Therapy 179 citations , December 1989 in “Medical Entomology and Zoology” Effective management of ichthyoses requires genetic counseling and appropriate treatments.