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. 2017 Jan 14;5(2):110–116. doi: 10.1002/mgg3.229

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© 2016 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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The family structure and the main clinical features of the two probands (A) R92Q segregation in two families. Members of two unrelated families, and their respective genotypes at the TNFRSF1A gene (OMIM #191190; NM_001065.3), are represented. Black, dark gray, light gray, and white symbols represent individuals with a clear autoinflammatory picture (i.e., probands), patients with mild symptoms, patients with evanescent symptomatology in the early childhood, and totally asymptomatic individuals, respectively. The parents of patient 1 were second degree cousins (double line). (B) Comparative epidemiological and clinical data for the two probands.