Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome
出版年份 2020 全文链接
标题
Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome
作者
关键词
-
出版物
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume -, Issue -, Pages -
出版商
Wiley
发表日期
2020-12-31
DOI
10.1002/ajmg.a.62027
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications
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- Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy
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- Giant Fusiform and Dolichoectatic Aneurysms of the Basilar Trunk and Vertebrobasilar Junction—Clinicopathological and Surgical Outcome
- (2020) Hirofumi Nakatomi et al. NEUROSURGERY
- Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms
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- Constitutive activation of the PI3K‐AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome
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- Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet‐derived growth factor receptor‐beta
- (2019) Toshiki Takenouchi et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
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- (2017) Dinel Pond et al. GENETICS IN MEDICINE
- A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome
- (2015) Jennifer J. Johnston et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2014) Gretchen MacCarrick et al. GENETICS IN MEDICINE
- Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type
- (2013) Flore Zufferey et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- PDGFRβ Signaling Regulates Mural Cell Plasticity and Inhibits Fat Development
- (2011) Lorin E. Olson et al. DEVELOPMENTAL CELL
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