
p.Pro4Arg mutation in LMNA gene: a new atypical progeria phenotype without metabolism abnormalities
Keywords: جهش; HGPS, Hutchinson–Gilford progeria syndrome; LMNA, lamin A/C; APS, atypical progeroid syndrome; MAD, mandibuloacral dysplasiaAtypical progeroid syndrome (APS); Hutchinson–Gilford progeria syndrome (HGPS); Lamin A/C (LMNA); Progeria; Mutation