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1 Possible Causes for Allelic Disorder to Early Onset Sarcoidosis

  • Blau Syndrome

    The proband in this study was a 4-year-old Mexican girl with Blau syndrome. She and her affected family members had skin rash and arthritis but no uveitis. Exome sequencing and DNA direct sequencing from blood samples revealed a novel nucleotide-binding oligomerization domain-containing protein 2 gene mutation in[…][]

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