دورية أكاديمية

The association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein-Taybi syndrome

التفاصيل البيبلوغرافية
العنوان: The association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein-Taybi syndrome
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