Eszter Sara Arany

Expanding the Progeroid Laminopathy Spectrum: Clinical Variability and Later‐Onset Phenotype in Homozygous LMNA c.1579C>T (p.Arg527Cys) Associated Mandibuloacral Dysplasia

Homozygous LMNA c.1579C>T p.(Arg527Cys) has previously been reported in seven families and is associated with a progeroid phenotype intermediate between Hutchinson–Gilford progeria syndrome (HGPS) and mandibuloacral dysplasia type A (MAD‐A). Due to the limited number of reported cases, the complete phenotypic spectrum...