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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Detalhes bibliográficos
Publicado no:Ann Rehabil Med
Main Authors: Lee, Heewon, Kim, Joon Sung, Lim, Seong Hoon, Sul, Bomi, Hong, Bo Young
Formato: Artigo
Idioma:Inglês
Publicado em: Korean Academy of Rehabilitation Medicine 2018
Assuntos:
Case Report
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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