Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics
Abstract We report our 5-year experience in neurofibromatosis type 1 prenatal diagnosis (PND): 205 PNDs in 146 women (chorionic villus biopsies, 88% or amniocentesis, 12%). The NF1 variant was present in 85 (41%) and absent in 122 (59%) fetuses. Among 205 pregnancies (207 fetuses), 135 were carried...
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| Autori principali: | , , , , , , , , , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Nature Portfolio
2024-09-01
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| Serie: | npj Genomic Medicine |
| Accesso online: | https://doi.org/10.1038/s41525-024-00425-9 |
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