biostudies-literatureUnknown191(1)Bruno LPTelethonAmerican journal of medical genetics. Part A284-288https://www.ebi.ac.uk/biostudies/studies/S-EPMC10092205biostudies-literatureExpanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients.PMC10092205GTB12001Ariani FBruno LPMencarelli MAResciniti SDoddato GMirjam LBaldassarri MRizzo CLZguro KFurini SBruttini MRenieri AfalseExpanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients.2023-01-01T00:00:00Z2023 Jan2024-11-09T20:38:00.02Z2024-11-09T20:38:00.02ZS-EPMC100922053621054910.1002/ajmg.a.62984