Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B -Related Marbach-Schaaf Neurodevelopmental Syndrome: A Case Series
PRKAR1B相关Marbach-Schaaf神经发育综合征的表型和基因型谱的扩展:病例系列研究
期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.70094
Burkart, Sebastian; Guzeloglu, Tarik; Soares, Ana R; Valenzuela, Irene; Tizzano, Eduardo F; Gómez-Andres, David; Pasquier, Laurent; Legendre, Marine; Berges, Camille; Thevenon, Julien; Gauthier, Marjolaine; Heid, Caleb; Ranum, Elly; Shen, Joseph; Frees, Michelle; Schmidtke, Michael W; Pilar, Caro; Schaaf, Christian P