Biallelic mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder

HIGHLIGHTS

• who: Biallelic, PAX and Heterozygous, Pax from the of Immunology, Erasmus MC, Rotterdam, Netherlands have published the research work: Biallelic mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder, in the Journal: (JOURNAL) of 04/09/2022
• what: The authors demonstrate that PAX5 mutations can cause a monogenic form of ASD. To investigate a correlation between the loss of Pax5 binding and gene_expression, the authors focused the analysis on Pax5 peaks in the transcription start site (TSS) region of activated genes, as exemplified by the analysis of Siglecg, Heyl, Dkk3, and Pcp4l1. Kaiser et_al Hypogammaglobulinemia . . .
  

   

  

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