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Yinmo Jiang

As seen in: MDPI
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Articles

Children | Free Full-Text | Thirteen New Patients of PPP2R5D Gene Mutation and the Fine Profile of Genotype-Phenotype Correlation Unraveling the Pathogenic Mechanism Underlying Macrocephaly Phenotype

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By Yinmo Jiang, Bingbing Wu, Xi Zhang, Lin Yang
| MDPI
All articles published by MDPI are made immediately available worldwide under an open access license. No special permission is required to reuse all or part of the article published by MDPI, including figures and tables. For articles published under an open access Creative Common CC BY license, any part of the article may be reused without permission provided that the original article is clearly cited. For more information, please refer to https://www.mdpi.com/openaccess.
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Novel Variants of PPP2R1A in Catalytic Subunit Binding Domain and Genotype-Phenotype Analysis in Neurodevelopmentally Delayed Patients

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By Yanyan Qian, Ji Wang, Bingbing Wu, Yinmo Jiang
| MDPI
1. Introduction Neurodevelopmental disorders (NDDs) are a group of rare diseases with high-incidence genetic heterogeneity. The genetic diagnostic rates of NDD and intellectual disability (ID) are about 30% and 40%, respectively, in the UK 100,000 genome project [1]. Protein phosphorylation is the most common post-transcriptional modification, with more than 96% occurring for serine (Ser) and threonine (Thr).
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