Piane M, Della Monica M, Piatelli G, Lulli P, Lonardo F, Chessa L, Scarano G. Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of the PCNT gene. American J of Med Genetics Pt A. 2009 Oct 28;149A(11):2452–6. doi: 10.1002/ajmg.a.33035.
Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of the PCNT gene