16 citations
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March 2005 in “Journal of The American Academy of Dermatology” A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
8 citations
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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.
15 citations
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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.
2 citations
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June 2025 in “Medicina” Early diagnosis using eye tests and lab markers can improve treatment for pediatric Sjögren's syndrome.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.