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...

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Enregistré dans:
Détails bibliographiques
Publié dans:Clin Case Rep
Auteurs principaux: Kutukculer, Necil, Topyildiz, Ezgi, Berdeli, Afig, Guven Bilgin, Burcu, Aykut, Ayca, Durmaz, Asude, Cogulu, Ozgur, Aksu, Guzide, Edeer Karaca, Neslihan
Format: Artigo
Langue:Inglês
Publié: John Wiley and Sons Inc. 2021
Sujets:
Case Reports
Accès en ligne: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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