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Clinical, neuroimaging and molecular characteristics of PPP2R5D -related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.

Nora OyamaPieter VaneyndeSara ReynhoutEmily M PaoAndrew TimmsXiao FanKimberly FossRita DeruaVeerle JanssensWendy K ChungGhayda M Mirzaa
Published in: Journal of medical genetics (2022)
-related neurodevelopmental disorders, expands the clinical and molecular spectrum and identifies genotype-phenotype correlations.
Keyphrases
  • congenital heart disease