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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...
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| Publicado no: | Ann Rehabil Med |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Korean Academy of Rehabilitation Medicine
2018
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| Assuntos: | |
| Acesso em linha: | 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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