Case Report: Deep Sequencing and Long-Read Genome Sequencing Refine Prior Genetic Analyses in Families with Apparent Gonadal Mosaicism in PIK3CD-related Activated PI3K Delta Syndrome
Frontiers in Immunology（2024）
Key words
gonadal mosaicism,gonosomal mosaicism,PIK3CD,inborn errors of immunity,primary immunodeficiency diseases
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