A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

MARINI M;BOCCIARDI R;GIMELLI S;DI DUCA M;DIVIZIA MT;BABAN A;GASPAR H;MAMMI I;GARAVELLI L;CERONE R;EMMA F;BEDESCHI MF;TENCONI R;SENSI A;SALMAGGI A;BENGALA M;MARI F;COLUSSI G;SZCZALUBA K;ANTONARAKIS SE;SERI M;LERONE M;R. RAVAZZOLO

2010