A novel proximal 3q29 chromosome microdeletion in a Chinese patient with Chiari malformation type II and Sprengel’s deformity

BACKGROUND: Chiari malformation type II (CM-II) is mainly characterized by elongation and descent of the cerebellum through the foramen magnum into the spinal canal. Moreover, CM-II is uniquely associated with myelomeningocele. Sprengel’s deformity refers to the malposition of the scapula, i.e. scap...

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Detalles Bibliográficos
Autores principales: Guo, Shuai, Fan, Xue-Feng, Jin, Jie-Yuan, Fan, Liang-Liang, Zeng, Lei, Zhou, Zheng-Bing, Xiang, Rong, Tang, Ju-Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5781338/
https://www.ncbi.nlm.nih.gov/pubmed/29410707
http://dx.doi.org/10.1186/s13039-018-0358-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5781338/
https://www.ncbi.nlm.nih.gov/pubmed/29410707
http://dx.doi.org/10.1186/s13039-018-0358-4

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