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Maternal Mosaicism Confounds the Neonatal Diagnosis of Type 1 Timothy Syndrome
The presence of 2 distinct populations of somatic or germline cells within a single individual harboring different genotypes is termed mosaicism. Recent reports suggest that parental mosaicism is involved in the heritability of type 1 Timothy syndrome (TS1), an extremely rare and life-threatening mu...
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| 主要な著者: | , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
American Academy of Pediatrics
2013
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3666110/ https://ncbi.nlm.nih.gov/pubmed/23690510 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1542/peds.2012-2941 |
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