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


Mandibuloacral dysplasia (MAD) is a rare disease resulting from a mutation of LMNA gene encoding lamins A and C. The most common mutation associated with this disease is a homozygous arginine 527 replacement by histidine. Three female patients originating from two unrelated families from Northeast Egypt were examined. Their growth was retarded; they had… (More)
DOI: 10.1038/ejhg.2012.77


7 Figures and Tables


Citations per Year

Citation Velocity: 9

Averaging 9 citations per year over the last 3 years.

Learn more about how we calculate this metric in our FAQ.