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-Reference-Cited by-同舟云学术

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

Published:2000-12 Issue:13 Volume:20 Page:1055-1062
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenat. Diagn.

Author:

Thornhill Alan R.¹,Pickering Susan J.²,Whittock Neil V.³,Caller Jenny²,Andritsos Vicky²,Bickerstaff Helen E.²,Handyside Alan H.⁴,Eady Robin A. J.³,Braude Peter R.²,McGrath John A.³

Affiliation:

1. Division of Reproductive Endocrinology & Infertility, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA

2. Assisted Conception Unit, 7th Floor, North Wing, St Thomas' Hospital, Lambeth Palace Road, London SE1 7EH, UK

3. Department of Cell and Molecular Pathology, St John's Institute of Dermatology, St Thomas' Hospital, Lambeth Palace Road, London SE1 7EH, UK

4. School of Biology, University of Leeds, Leeds LS2 9JT, UK

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/1097-0223%28200012%2920%3A13%3C1055%3A%3AAID-PD978%3E3.0.CO%3B2-%23

Reference26 articles.

1. The plakophilin 1 (PKP1) and plakoglobin (JUP) genes map to human chromosomes 1q and 17, respectively

2. Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa

3. Single-sperm typing: determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers.

4. A technique for eliminating allele specific amplification failure during DNA amplification of heterozygous cells for preimplantation diagnosis

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2. Genetics and the Skin;Rook's Textbook of Dermatology, Ninth Edition;2016-10-09

3. Revisited diagnostics of hereditary epidermolysis bullosa;Vestnik dermatologii i venerologii;2014-06-24

4. Intrauterine Diagnosis of Genodermatoses;Current Dermatology Reports;2013-09-03

5. Prenatal Diagnosis of Epidermolysis Bullosa;Dermatologic Clinics;2010-04