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Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism
The 17q21.31 microdeletion syndrome is characterised by intellectual disability, epilepsy, distinctive facial dysmorphism, and congenital anomalies. To date, all individuals reported with this syndrome have been simplex patients, resulting from de novo deletions. Here, we report sibling recurrence o...
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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: |
Nature Publishing Group
2012
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3376266/ https://ncbi.nlm.nih.gov/pubmed/22293690 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.1 |
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