European Journal of Human Genetics, Published online: 17 September 2026; doi:10.1038/s41431-026-02223-6
Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patientsEuropean Journal of Human Genetics, Published online: 17 September 2026; doi:10.1038/s41431-026-02223-6
Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients