A novel homozygous p.Arg527Leu LMNA mutation in two unrelated egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome
| Authors | Al-Haggar M, Madej-Pilarczyk A, Kozlowski L, Bujnicki JM, Yahia S, Abdel-Hadi D, Shams A, Ahmad N, Hamed S, Puzianowska-Kuznicka M |
|---|---|
| Year | 2012 |
| Journal | Eur J Hum Genet |
| Volume | 20(11) |
| Pages | 1134-40 |