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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
The introduction of array CGH in clinical diagnostics has led to the discovery of many new microdeletion/microduplication syndromes. Most of them are rare and often present with a variable range of clinical anomalies. In this study we report three patients with a de novo overlapping microdeletion of...
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| Main Authors: | , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3190250/ https://ncbi.nlm.nih.gov/pubmed/21505450 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.67 |
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