APLAID complicated with arrhythmogenic dilated cardiomyopathy caused by a novel PLCG2 variant
Author:
Funder
Zhejiang Medical and Health Science and Technology Project
Jiaxing Science and Technology Plan Project
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s12026-024-09455-y.pdf
Reference35 articles.
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4. Hernández-Ostiz S, Prieto-Torres L, Xirotagaros G, Noguera-Morel L, Hernández-Martín Á, Torrelo A. Autoinflammatory diseases in pediatric dermatology-part 1: urticaria-like syndromes, pustular syndromes, and mucocutaneous ulceration syndromes. Actas Dermosifiliogr. 2017;108(7):609–19.
5. Zhou Q, Lee GS, Brady J, Datta S, Katan M, Sheikh A, et al. A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. Am J Hum Genet. 2012;91(4):713–20.
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