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Cervical Spine Malformations Associated With a 5q34-5q35.2 Micro-interstitial Deletion: A Case Report
We report a female proband carrying a de novo 5q34-q35.2 deletion breakpoint, and review the unique skeletal phenotype and possible genotype related to this mutation. The patient presented with a persistent head tilt and limited head rotation. Non-contrast-enhanced three-dimensional computed tomogra...
Tallennettuna:
| Julkaisussa: | Ann Rehabil Med |
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| Päätekijät: | , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Korean Academy of Rehabilitation Medicine
2018
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6325309/ https://ncbi.nlm.nih.gov/pubmed/30613082 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5535/arm.2018.42.6.884 |
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