Publication | Open Access

A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome

Unrelated Egyptian FamiliesMendelian DisorderProgeria SyndromeGenetic DisorderMandibuloacral DysplasiaGeneticsGenetic EpidemiologyPathologyMolecular GeneticsMedical GeneticsDisease Gene IdentificationMedicineClinical Genetics