TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype.
Abaji M, Mignon-Ravix C, Gorokhova S, Cacciagli P, Mortreux J, Molinari F, Chabrol B, Sigaudy S, Villard L, Riccardi F. J Med Genet. 2023 Oct; 60(10):1021-1025. Epub 2023 Feb 27.