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- 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.
- Authors
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
- 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.
- Publication
Prenatal Diagnosis, 2000, Vol 20, Issue 12, p1055
- ISSN
0197-3851
- Publication type
journal article