کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3041303 | 1184770 | 2010 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Cavernous malformations of the central nervous system combined with cutaneous vascular lesions due to KRIT1 mutation: A case report
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موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
عصب شناسی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Cavernous malformations of the central nervous system combined with cutaneous vascular lesions due to KRIT1 mutation: A case report Cavernous malformations of the central nervous system combined with cutaneous vascular lesions due to KRIT1 mutation: A case report](/preview/png/3041303.png)
چکیده انگلیسی
Cavernous malformations (CMs) of the central nervous system can occur in a sporadic condition or as a familial form with an autosomal-dominant inherited pattern. Apart from a family history, some clinical features may help to identify familial CMs. We demonstrate clinical, neuroradiological, pathological, and genetic data of a patient with cerebral and spinal CMs. The presence of multiple cerebral CMs and distinct cutaneous vascular lesions, including hyperkeratotic cutaneous capillary-venous malformations, in this patient suggested familial CMs. A genetic study confirmed a nonsense mutation (c.1708A>T) in the KRIT1 gene.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinical Neurology and Neurosurgery - Volume 112, Issue 8, October 2010, Pages 729–732
Journal: Clinical Neurology and Neurosurgery - Volume 112, Issue 8, October 2010, Pages 729–732
نویسندگان
Min-Yu Lan, Yu-Fan Liu, Chao-Chen Huang, Chen-Huei Peng, Jia-Shou Liu, Yung-Yee Chang,