| Item type |
デフォルトアイテムタイプ_（フル）(1) |
| 公開日 |
2023-03-18 |
| タイトル |
|
|
タイトル |
A Japanese Pedigree of Familial Cerebral Cavernous Malformations : A Case Report |
|
言語 |
en |
| 作成者 |
Imada, Yasutaka
Yuki, Kiyoshi
Migita, Keisuke
Sadatomo, Takashi
Kuwabara, Masashi
Yamada, Toru
Kurisu, Kaoru
|
| アクセス権 |
|
|
アクセス権 |
open access |
|
アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
| 権利情報 |
|
|
権利情報 |
Copyright (c) Hiroshima University Medical Press |
| 主題 |
|
|
主題Scheme |
Other |
|
主題 |
Cerebral cavernous malformation |
| 主題 |
|
|
主題Scheme |
Other |
|
主題 |
Familial cerebral cavernous malformation |
| 主題 |
|
|
主題Scheme |
Other |
|
主題 |
Genetic analysis |
| 主題 |
|
|
主題Scheme |
Other |
|
主題 |
Japanese |
| 主題 |
|
|
主題Scheme |
NDC |
|
主題 |
490 |
| 内容記述 |
|
|
内容記述 |
Familial cerebral cavernous malformations (FCCM) are autosomal-dominant vascular malformations. At present, 3 cerebral cavernous malformation genes (KRIT1/CCM1, MGC4607/ CCM2, and PDCD10/CCM3) have been identified. Few genetic analyses of Japanese FCCM have been reported. A Japanese pedigree of 4 patients with FCCM has been reported that includes the genetic analysis of one of the patients. All 4 patients showed multiple lesions in the brain. Surgical removal was performed at our hospital due to enlargement or hemorrhage of the intracranial lesions in a 21-year-old female (Case 1) and a 30-year-old male (Case 2). The histological diagnoses were cavernous malformations. A 62-year-old female (Case 4), the mother of Cases 1, 2, and 3, suffered from intramedullary hemorrhage at T6-7 and surgical removal was performed at another hospital. Only one patient, a 32-year-old female (Case 3), did not show symptoms. The genetic analysis of Case 2 demonstrated heterozygous partial deletions of exons 12-15 of the KRIT1 gene. |
|
言語 |
en |
| 出版者 |
|
|
出版者 |
Hiroshima University Medical Press |
| 言語 |
|
|
言語 |
eng |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
departmental bulletin paper |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| 収録物識別子 |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
0018-2052 |
| 収録物識別子 |
|
|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA00664312 |
| 開始ページ |
|
|
開始ページ |
43 |
| 書誌情報 |
Hiroshima Journal of Medical Sciences
Hiroshima Journal of Medical Sciences
巻 63,
号 4,
p. 43-48,
発行日 2014-12
|
| 旧ID |
37114 |
HiroshimaJMedSci_63_43.pdf (348.9 KB)
