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Cryptic FMR1 mosaic deletion in a phenotypically normal mother of a boy with fragile X syndrome: case report
BACKGROUND: Increasing number of case reports of mosaic mutations and deletions have better armed clinicians and geneticists with more accurate and focused prenatal diagnoses. Since mosaicism means a significant increase of recurrence risk, detailed parental profiling is essential for risk assessmen...
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| Publié dans: | BMC Med Genet |
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| Auteurs principaux: | , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BioMed Central
2014
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4411709/ https://ncbi.nlm.nih.gov/pubmed/25421229 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-014-0125-2 |
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