Article
International Expert Opinion on Standard of Care for Patients With Schinzel-Giedion Syndrome: A Modified Delphi Study.
American journal of medical genetics. Part A - 1 Jun 2025
Duis Jessica, Agresta Laura, Bennett William E, Chambers Henry, Clarke Antonia, Fairhurst Charlie, Hoover-Fong Julie, Murphy Feilim, Noritz Garey, Schwantes Scott, Shreve Michael, Thusang Kabelo, Weidemann Darcy, Beale Rebecca, Mehta Aditi, Wilhelmsen Andrew, Summerfield Nuala
Abstract excerpt
Schinzel-Giedion Syndrome (SGS) is an ultra-rare, multisystem, genetic developmental disorder caused by gain-of-function pathogenic variants in the SETBP1 gene. No standard of care (SoC) recommendations currently exist. To assess expert opinion on SoC for individuals with SGS using a modified Delphi method. A multidisciplinary panel of 21 experts from the USA and Europe was assembled. Experts responded to a...
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