A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations.

Li, Chunwang; Liu, Penghui; Huang, Weilin; Wang, Haojie; Ma, Ke; Zhuo, Lingyun; Kang, Yaqing; He, Qiu; Lin, Yuanxiang; Kang, Dezhi; Lin, Fuxin

Li, Chunwang; Liu, Penghui; Huang, Weilin; Wang, Haojie; Ma, Ke; Zhuo, Lingyun; Kang, Yaqing; He, Qiu; Lin, Yuanxiang; Kang, Dezhi; Lin, Fuxin.

Afiliação

Li C; Department of Neurosurgery, Neurosurgery Research Institute, The First Affiliated Hospital, Fujian Medical University, Fuzhou, 350005, Fujian, China.
Liu P; Department of Neurosurgery, Binhai Branch of National Regional Medical Center, The First Affiliated Hospital, Fujian Medical University, Fuzhou, 350209, Fujian, China.
Huang W; Department of Neurosurgery, Neurosurgery Research Institute, The First Affiliated Hospital, Fujian Medical University, Fuzhou, 350005, Fujian, China.
Wang H; Department of Neurosurgery, Binhai Branch of National Regional Medical Center, The First Affiliated Hospital, Fujian Medical University, Fuzhou, 350209, Fujian, China.
Ma K; Department of Radiology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, 350005, Fujian, China.
Zhuo L; Department of Neurosurgery, Neurosurgery Research Institute, The First Affiliated Hospital, Fujian Medical University, Fuzhou, 350005, Fujian, China.
Kang Y; Department of Neurosurgery, Binhai Branch of National Regional Medical Center, The First Affiliated Hospital, Fujian Medical University, Fuzhou, 350209, Fujian, China.
He Q; Clinical Research and Translation Center, The First Affiliated Hospital, Fujian Medical University, Fuzhou, 350005, Fujian, China.
Lin Y; Department of Neurosurgery, Neurosurgery Research Institute, The First Affiliated Hospital, Fujian Medical University, Fuzhou, 350005, Fujian, China.
Kang D; Department of Radiology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, 350005, Fujian, China.
Lin F; Department of Neurosurgery, Neurosurgery Research Institute, The First Affiliated Hospital, Fujian Medical University, Fuzhou, 350005, Fujian, China.

Neurogenetics ; 24(2): 137-146, 2023 04.

Article em En | MEDLINE | ID: mdl-36892712

Assuntos

Hemangioma Cavernoso do Sistema Nervoso Central; Feminino; Humanos; Hemangioma Cavernoso do Sistema Nervoso Central/genética; Hemangioma Cavernoso do Sistema Nervoso Central/patologia; Proteínas Proto-Oncogênicas/genética; População do Leste Asiático; Proteínas Associadas aos Microtúbulos/genética; Linhagem; Mutação; Proteína KRIT1/genética; Receptor Notch3/genética

Palavras-chave

Chinese family; Familial cerebral cavernous malformation; KRIT1; NOTCH3; Novel mutation; Whole-exome sequencing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hemangioma Cavernoso do Sistema Nervoso Central Limite: Female / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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