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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-Deschner
Published in: Journal of clinical medicine (2022)
gene variant (c.77C>T, p.Thr26Met) might cause phenotypical overlap of PLAID and APLAID patterns.
Keyphrases
  • copy number
  • genome wide
  • genome wide identification
  • case report
  • genome wide analysis