Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency.
| Author | |
|---|---|
| Abstract |
:
Preimplantation genetic diagnosis (PGD) is a powerful tool for preventing the transmission of Mendelian disorders from generation to generation. However, PGD only can identify monogenically inherited diseases, but not other potential monogenic pathologies. We aimed to use PGD to deliver a healthy baby without congenital FVII deficiency or other common Mendelian diseases in a couple in which both individuals carried a deleterious mutation in the F7 gene. |
| Year of Publication |
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2018
|
| Journal |
:
BMC medical genetics
|
| Volume |
:
19
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| Issue |
:
1
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| Number of Pages |
:
15
|
| Date Published |
:
2018
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| URL |
:
https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-018-0525-9
|
| DOI |
:
10.1186/s12881-018-0525-9
|
| Short Title |
:
BMC Med Genet
|
| Download citation |
