Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference

We suggest PLAID, APLAID, and FCAS3 have to be considered as different aspects of the same underlying condition, because of our long‐term clinical and genetical experiences. Some CVID patients have the same disease‐causing mutations in PLCG2 gene, so it may be better to define all of them as “PLCG2d...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Clin Case Rep
Main Authors: Kutukculer, Necil, Topyildiz, Ezgi, Berdeli, Afig, Guven Bilgin, Burcu, Aykut, Ayca, Durmaz, Asude, Cogulu, Ozgur, Aksu, Guzide, Edeer Karaca, Neslihan
פורמט: Artigo
שפה:Inglês
יצא לאור: John Wiley and Sons Inc. 2021
נושאים:
Case Reports
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC8077279/
https://ncbi.nlm.nih.gov/pubmed/33936634
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.3934
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