Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review.
Tatjana WelzelLea OefeleinUrsula HolzerAmelie MüllerBenita MendenTobias B HaackMiriam GroβJasmin B Kuemmerle-DeschnerPublished in: Journal of clinical medicine (2022)
gene variant (c.77C>T, p.Thr26Met) might cause phenotypical overlap of PLAID and APLAID patterns.