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Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene

Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue. We report 2 cases of familial CCMs diagnosed with the CCM1 mutation by using a genetic assay. A 5-year-old boy presented with headache, vomi...

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Detalhes bibliográficos
Publicado no:Korean J Pediatr
Main Authors: Yang, Im-Yong, Yum, Mi-Sun, Kim, Eun-Hee, Choi, Hae-Won, Yoo, Han-Wook, Ko, Tae-Sung
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Pediatric Society 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4958707/
https://ncbi.nlm.nih.gov/pubmed/27462358
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2016.59.6.280
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