Expanding the clinical and genetic spectrum of PCYT2-related disorders.

This study was supported by the Centre for Biomedical Research on Rare Diseases (CIBERER) [ACCI19-759], the URDCat program (PERIS SLT002/16/00174), the Hesperia Foundation and the Secretariat for Universities and Research of the Ministry of Business and Knowledge of the Government of Catalonia [2017SGR1206] to A.P., and Instituto de Salud Carlos III [PI14/00581] (Co-funded by European Regional Development Fund. V.V., E.V. and L.P.S. were funded by grants from Instituto de Salud Carlos III, co-funded by European Social Fund. ESF investing in your future (Rio Hortega, CM18/00145; Sara Borrell, CD19/00221; PFIS, FI18/00141)