Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications
出版年份 2020 全文链接
标题
Kosaki overgrowth syndrome: A novel pathogenic variant in
PDGFRB
and expansion of the phenotype including cerebrovascular complications
作者
关键词
-
出版物
CLINICAL GENETICS
Volume -, Issue -, Pages -
出版商
Wiley
发表日期
2020-04-15
DOI
10.1111/cge.13752
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。- 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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- A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome
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- Expression of platelet-derived growth factor B is upregulated in patients with thoracic aortic dissection
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- (2017) Natalia Murray et al. European Journal of Medical Genetics
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- (2017) Dinel Pond et al. GENETICS IN MEDICINE
- Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test
- (2016) J. Thevenon et al. CLINICAL GENETICS
- A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome
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- Novel Overgrowth Syndrome Phenotype Due to Recurrent De Novo PDGFRB Mutation
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- A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis
- (2013) Yee Him Cheung et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis
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- Role of platelet-derived growth factors in physiology and medicine
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