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

doi:10.1002/1097-0223(200012)20:13<1055::aid-pd978>3.0.co;2-%23

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

皮膚學科

研究成果: Article › 同行評審

22 引文斯高帕斯（Scopus）

摘要

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.

原文	English
頁（從 - 到）	1055-1062
頁數	8
期刊	Prenatal Diagnosis
卷	20
發行號	13
DOIs	https://doi.org/10.1002/1097-0223(200012)20:13<1055::aid-pd978>3.0.co;2-%23
出版狀態	Published - 2000

All Science Journal Classification (ASJC) codes

婦產科
遺傳學（臨床）

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10.1002/1097-0223(200012)20:13<1055::aid-pd978>3.0.co;2-%23

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引用此

Thornhill, A. R., Pickering, S. J., Whittock, N. V., Caller, J., Andritsos, V., Bickerstaff, H. E., Handyside, A. H., Eady, R. A. J., Braude, P. R., & McGrath, J. A. (2000). 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. Prenatal Diagnosis, 20(13), 1055-1062. https://doi.org/10.1002/1097-0223(200012)20:13<1055::aid-pd978>3.0.co;2-%23

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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",

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.",

author = "Thornhill, \{Alan R.\} and Pickering, \{Susan J.\} and Whittock, \{Neil V.\} and Jenny Caller and Vicky Andritsos and Bickerstaff, \{Helen E.\} and Handyside, \{Alan H.\} and Eady, \{Robin A.J.\} and Braude, \{Peter R.\} and McGrath, \{John A.\}",

year = "2000",

doi = "10.1002/1097-0223(200012)20:13<1055::aid-pd978>3.0.co;2-\%23",

language = "English",

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}

Thornhill, AR, Pickering, SJ, Whittock, NV, Caller, J, Andritsos, V, Bickerstaff, HE, Handyside, AH, Eady, RAJ, Braude, PR & McGrath, JA 2000, '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', Prenatal Diagnosis, 卷 20, 編號 13, 頁 1055-1062. https://doi.org/10.1002/1097-0223(200012)20:13<1055::aid-pd978>3.0.co;2-%23

TY - JOUR

T1 - Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome

T2 - A case report

AU - Thornhill, Alan R.

AU - Pickering, Susan J.

AU - Whittock, Neil V.

AU - Caller, Jenny

AU - Andritsos, Vicky

AU - Bickerstaff, Helen E.

AU - Handyside, Alan H.

AU - Eady, Robin A.J.

AU - Braude, Peter R.

AU - McGrath, John A.

PY - 2000

Y1 - 2000

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/0034507517

UR - https://www.scopus.com/pages/publications/0034507517#tab=citedBy

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AN - SCOPUS:0034507517

SN - 0197-3851

VL - 20

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Thornhill AR, Pickering SJ, Whittock NV, Caller J, Andritsos V, Bickerstaff HE 等. 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. Prenatal Diagnosis. 2000;20(13):1055-1062. doi: 10.1002/1097-0223(200012)20:13<1055::aid-pd978>3.0.co;2-%23

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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