Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients.
Lucia Pia BrunoGabriella DoddatoMargherita BaldassarriCaterina Lo RizzoSara RescinitiMirella BruttiniLista MirjamKristina ZguroSimone FuriniMaria Antonietta MencarelliAlessandra RenieriFrancesca ArianiPublished in: American journal of medical genetics. Part A (2022)