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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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Detalles Bibliográficos
Autores principales: Kutukculer, Necil, Topyildiz, Ezgi, Berdeli, Afig, Guven Bilgin, Burcu, Aykut, Ayca, Durmaz, Asude, Cogulu, Ozgur, Aksu, Guzide, Edeer Karaca, Neslihan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077279/
https://www.ncbi.nlm.nih.gov/pubmed/33936634
http://dx.doi.org/10.1002/ccr3.3934