Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report.

Published in:

2000

By:

• Thornhill, A R;
• Pickering, S J;
• Whittock, N V;
• Caller, J;
• Andritsos, V;
• Bickerstaff, H E;
• Handyside, A H;
• Eady, R A;
• Braude, P R;
• McGrath, J A

Publication type:

journal article