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- W4256485507 abstract "A new form of genodermatosis resulting from mutations in the gene plakophilin 1 (PKP1) has recently been identified. The clinical features of a functional knockout of PKP1 are a combination of skin fragility and a form of hypohydrotic ectodermal dysplasia. We have developed a single cell polymerase chain reaction (PCR) assay suitable for preimplantation genetic diagnosis (PGD) and here we report on the clinical application of this assay." @default.
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- W4256485507 date "2000-12-01" @default.
- W4256485507 modified "2023-09-28" @default.
- W4256485507 title "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" @default.
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- W4256485507 doi "https://doi.org/10.1002/1097-0223(200012)20:13<1055::aid-pd978>3.0.co;2-" @default.
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