Clinical, neuroimaging and molecular characteristics of PPP2R5D -related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.
Journal of medical genetics（2022）
摘要
Our study delineates the most common features of -related neurodevelopmental disorders, expands the clinical and molecular spectrum and identifies genotype-phenotype correlations.
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关键词
Genetic Research,Genetics
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