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Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature
BACKGROUND: Deletions of the long arm of chromosome 18 cause a common autosomal syndrome clinically characterized by a protean clinical phenotype. CASE PRESENTATION: We report on a 16-month-old male infant affected by fever attacks apparently unrelated with any infectious or inflammatory symptoms, g...
में बचाया:
| में प्रकाशित: | Mol Cytogenet |
|---|---|
| मुख्य लेखकों: | , , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
BioMed Central
2016
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5057431/ https://ncbi.nlm.nih.gov/pubmed/27766118 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-016-0285-1 |
| टैग : |
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