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

Alan R. Thornhill, Susan J. Pickering, Neil V. Whittock, Jenny Caller, Vicky Andritsos, Helen E. Bickerstaff, Alan H. Handyside, Robin A.J. Eady, Peter R. Braude, John A. McGrath

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Medicine & Life Sciences