Vision-threatening bilateral panuveitis and TRAPS in a child: an uncommon association
Author:
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology
Link
http://link.springer.com/article/10.1007/s10792-017-0785-y/fulltext.html
Reference18 articles.
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3. McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, Mansfield E et al (1999) Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 97:133–144
4. Rösen-Wolff A, Kreth HW, Hofmann S, Höhne K, Heubner G, Möbius D et al (2001) Periodic fever (TRAPS) caused by mutations in the TNFalpha receptor 1 (TNFRSF1A) gene of three German patients. Eur J Haematol 67:105–109
5. Grandemange S, Cabasson S, Sarrabay G, Pène J, Rittore C, Sanchez E et al (2017) Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype. Mol Genet Genomic Med 5:110–116
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