A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17. - Mukai, Takeo; Kato, Shota; Tanaka, Hiroyuki; Kuroda, Yukiko; Kitaoka, Hiroki; Ito, Atsushi; Shitara, Yoshihiko; Kashima, Kohei; Takami, Hirokazu; Takahashi, Naoto; Kato, Motohiro (Molecular Genetics & Genomic Medicine, 2024)