دورية أكاديمية
The association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein-Taybi syndrome
العنوان: | The association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein-Taybi syndrome |
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المؤلفون: | Giussani, Carlo, Selicorni, Angelo, Fossati, Chiara, Ingelmo, Pablo, Canonico, Francesco, Landi, Andrea, Trezza, Andrea, DALLA RIVA, MATTEO, Sganzerla, Erik P |
المساهمون: | Giussani, Carlo, Selicorni, Angelo, Fossati, Chiara, Ingelmo, Pablo, Canonico, Francesco, Landi, Andrea, Trezza, Andrea, DALLA RIVA, Matteo, Sganzerla, Erik P |
سنة النشر: | 2012 |
المجموعة: | Padua Research Archive (IRIS - Università degli Studi di Padova) |
مصطلحات موضوعية: | Arnold-Chiari Malformation, Cervical Vertebrae, Child, Cyclic AMP Response Element-Binding Protein, Female, Human, Image Processing, Computer-Assisted, Intellectual Disability, Magnetic Resonance Imaging, Male, Mutation, Neurologic Examination, Rubinstein-Taybi Syndrome, Scoliosi, Spinal Cord Compression, Spine, Syringomyelia, Tomography, X-Ray Computed |
الوصف: | Rubinstein-Taybi syndrome (RSTS) is a rare condition with characteristic genetic and clinical features. The presence of variable vertebral and neural axis abnormalities has been reported in the literature. We describe the possible association of multiple different spinal anomalies in these patients. |
نوع الوثيقة: | article in journal/newspaper |
اللغة: | English |
العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/22914921; info:eu-repo/semantics/altIdentifier/wos/WOS:000311200000024; volume:28; issue:12; firstpage:2163-8; lastpage:2168; journal:CHILDS NERVOUS SYSTEM; http://hdl.handle.net/11577/3301792Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84871242239 |
DOI: | 10.1007/s00381-012-1893-7 |
الإتاحة: | https://doi.org/10.1007/s00381-012-1893-7Test http://hdl.handle.net/11577/3301792Test |
رقم الانضمام: | edsbas.7B86094 |
قاعدة البيانات: | BASE |
DOI: | 10.1007/s00381-012-1893-7 |
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