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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Bibliographic Details
Published inPrenatal diagnosis Vol. 20; no. 13; pp. 1055 - 1062
Main Authors THORNHILL, Alan R, PICKERING, Susan J, WHITTOCK, Neil V, CALLER, Jenny, ANDRITSOS, Vicky, BICKERSTAFF, Helen E, HANDYSIDE, Alan H, EADY, Robin A. J, BRAUDE, Peter R, MCGRATH, John A
Format Journal Article
LanguageEnglish
Published Chichester Wiley 2000
Subjects
Biological and medical sciences
Birth control
Gynecology. Andrology. Obstetrics
Medical sciences
Sterility. Assisted procreation
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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ISSN:0197-3851
1097-0223