A Rare Case of an NLRP12-Associated Autoinflammatory Disease.
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DOI: 10.1016/j.ejmg.2021.104168
Abstract: Pathogenic variants in nucleotide-binding oligomerization-like receptor protein 12 (NLRP12) have been recently suggested as possible causes of autoinflammatory syndromes and should be considered for the differential diagnosis in the patients presenting with symptoms of autoinflammatory… read more here.
Keywords: associated autoinflammatory; autoinflammatory disease; rare case; case nlrp12 ... See more keywords