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.
Orellana H, Yan J, Paul A, Tokita M, Ding Y, Ghosh R, Lewis KL, Davis J, Jamal L, Jodarski C, Similuk M, Saucier N, Zhu Z, Wang Y, Wu S, Ruggieri J, Su HC, Uzel G, Nahas S, Cooper M, Walkiewicz MA.
Orellana H, et al. Among authors: jamal l.
Front Immunol. 2024 Aug 26;15:1451212. doi: 10.3389/fimmu.2024.1451212. eCollection 2024.
Front Immunol. 2024.
PMID: 39253077
Free PMC article.