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Detection of Mutually Exclusive Mosaicism in a Girl with Genotype-Phenotype Discrepancies
Discordance between clinical phenotype and genotype has multiple causes, including mosaicism. Phenotypes can be modified due to tissue distribution, or the presence of multiple abnormal cell lines with different genomic contributions. We have studied a 20-month-old female whose main phenotypes were...
Tallennettuna:
| Julkaisussa: | Am J Med Genet A |
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| Päätekijät: | , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
2015
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4715567/ https://ncbi.nlm.nih.gov/pubmed/26198585 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37261 |
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