Cervical Spine Malformations Associated With a 5q34-5q35.2 Micro-interstitial Deletion: A Case Report

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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Bibliographic Details
Main Authors: Heewon Lee, Joon Sung Kim, Seong Hoon Lim, Bomi Sul, Bo Young Hong
Format: Article
Language:English
Published: Korean Academy of Rehabilitation Medicine 2018-12-01
Series:Annals of Rehabilitation Medicine
Subjects:
Chromosome deletion
Spine
Abnormalities
Online Access:http://www.e-arm.org/upload/pdf/arm-2018-42-6-884.pdf

Internet

http://www.e-arm.org/upload/pdf/arm-2018-42-6-884.pdf

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