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 Preimplantation Genetics and Diagnosis
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| Published in | Prenatal diagnosis Vol. 20; no. 13; pp. 1055 - 1062 |
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| Main Authors | , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Chichester
Wiley
2000
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| Subjects | |
| Online Access | Get full text |
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| Author | EADY, Robin A. J CALLER, Jenny MCGRATH, John A THORNHILL, Alan R PICKERING, Susan J BICKERSTAFF, Helen E ANDRITSOS, Vicky BRAUDE, Peter R WHITTOCK, Neil V HANDYSIDE, Alan H |
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| Author_xml | – sequence: 1 givenname: Alan R surname: THORNHILL fullname: THORNHILL, Alan R organization: Division of Reproductive Endocrinology & Infertility. Mayo Clinic, 200 First Street SW, Rochester, MN 55905, United States – sequence: 2 givenname: Susan J surname: PICKERING fullname: PICKERING, Susan J organization: Assisted Conception Unit, 7th Floor, North Wing, St Thomas'Hospital, Lambeth Palace Road, London SE1 7EH, United Kingdom – sequence: 3 givenname: Neil V surname: WHITTOCK fullname: WHITTOCK, Neil V organization: Department of Cell and Molecular Pathology, St John's Institute of Dermatology, St Thomas'Hospital, Lambeth Palace Road, London SE1 7EH, United Kingdom – sequence: 4 givenname: Jenny surname: CALLER fullname: CALLER, Jenny organization: Assisted Conception Unit, 7th Floor, North Wing, St Thomas'Hospital, Lambeth Palace Road, London SE1 7EH, United Kingdom – sequence: 5 givenname: Vicky surname: ANDRITSOS fullname: ANDRITSOS, Vicky organization: Assisted Conception Unit, 7th Floor, North Wing, St Thomas'Hospital, Lambeth Palace Road, London SE1 7EH, United Kingdom – sequence: 6 givenname: Helen E surname: BICKERSTAFF fullname: BICKERSTAFF, Helen E organization: Assisted Conception Unit, 7th Floor, North Wing, St Thomas'Hospital, Lambeth Palace Road, London SE1 7EH, United Kingdom – sequence: 7 givenname: Alan H surname: HANDYSIDE fullname: HANDYSIDE, Alan H organization: School of Biology, University of Leeds, Leeds LS2 9JT, United Kingdom – sequence: 8 givenname: Robin A. J surname: EADY fullname: EADY, Robin A. J organization: Department of Cell and Molecular Pathology, St John's Institute of Dermatology, St Thomas'Hospital, Lambeth Palace Road, London SE1 7EH, United Kingdom – sequence: 9 givenname: Peter R surname: BRAUDE fullname: BRAUDE, Peter R organization: Assisted Conception Unit, 7th Floor, North Wing, St Thomas'Hospital, Lambeth Palace Road, London SE1 7EH, United Kingdom – sequence: 10 givenname: John A surname: MCGRATH fullname: MCGRATH, John A organization: Department of Cell and Molecular Pathology, St John's Institute of Dermatology, St Thomas'Hospital, Lambeth Palace Road, London SE1 7EH, United Kingdom |
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| Keywords | Human Hair Skin disease Embryo Assisted procreation Congenital disease Genetic determinism Ectodermal dysplasia Case study Polymerase chain reaction Preimplantation diagnosis Cytogenetics Mutation Molecular biology Sweat gland disease |
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| SubjectTerms | Biological and medical sciences Birth control Gynecology. Andrology. Obstetrics Medical sciences Sterility. Assisted procreation |
| Subtitle | Preimplantation Genetics and Diagnosis |
| 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 |
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