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A patient with constitutional ring 1 chromosome characterized by SNP array CGH
We present a male patient with constitutional ring 1 chromosome and subsequent 6 Mb deletion at 1q43q44. The patient displays overlapping clinical features with reported patients with ring 1 chromosome and 1q43q44 microdeletion syndrome. To our knowledge, this is the first patient with ring 1 chromo...
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| Vydáno v: | Clin Case Rep |
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| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2016
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4831404/ https://ncbi.nlm.nih.gov/pubmed/27099748 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.522 |
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