P156: PTPN1-related autoinflammation is a common cause of Aicardi Goutières syndrome with reduced penetrance

Emma K. Wiener(Children's Hospital of Philadelphia), Adeline Vanderver(Children's Hospital of Philadelphia), Asako Takanohashi(Children's Hospital of Philadelphia), Anjana Sevagamoorthy(Children's Hospital of Philadelphia), Mira Gandhi(Pacific Northwest Diabetes Research Institute), Mariko L. Bennett(Children's Hospital of Philadelphia), Kristen Fisher(Baylor College of Medicine), Danielle DeMarzo(Children's Hospital of Oklahoma), Francesco Gavazzi(Children's Hospital of Philadelphia), Tejas Jammihal(Children's Hospital of Philadelphia), Kaley Arnold(Children's Hospital of Philadelphia), Amy Pizzino(Children's Hospital of Philadelphia), Daniel G. Calame(Baylor College of Medicine), Lisa T. Emrick, Kathleen Sullivan(Children's Hospital of Philadelphia), James Lupski(Baylor College of Medicine), Arastoo Vossough(Children's Hospital of Philadelphia), Ivan Chinn(Baylor College of Medicine), Jesse Levine(Baylor College of Medicine), Laura Adang(Children's Hospital of Philadelphia), Sara Woidill(Children's Hospital of Philadelphia), Janhavi Lele(Children's Hospital of Philadelphia), Russell D’Aiello(Children's Hospital of Philadelphia), Ramakrishnan Rajagopalan(Children's Hospital of Philadelphia), Matthew T. Whitehead(Children's National)
Genetics in Medicine Open
January 1, 2026
Cited by 0


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