Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
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Title
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
Authors
Keywords
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Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2020-08-12
DOI
10.1038/s41431-020-00708-6
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Note: Only part of the references are listed.- Imaging of central lymphatic abnormalities in Noonan syndrome
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- (2016) Karim Kouz et al. GENETICS IN MEDICINE
- Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing
- (2016) Elizabeth J. Bhoj et al. GENETICS IN MEDICINE
- New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations
- (2015) M. Čizmárová et al. ANNALS OF HUMAN GENETICS
- Cancer spectrum and frequency among children with Noonan, Costello and cardio-facio-cutaneous syndromes
- (2015) C P Kratz et al. BRITISH JOURNAL OF CANCER
- The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome
- (2015) Sarah Joyce et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome
- (2015) Viviana Cordeddu et al. HUMAN MUTATION
- Rare variants inSOS2andLZTR1are associated with Noonan syndrome
- (2015) Guilherme Lopes Yamamoto et al. JOURNAL OF MEDICAL GENETICS
- Understanding SOS (Son of Sevenless)
- (2011) Stéphane Pierre et al. BIOCHEMICAL PHARMACOLOGY
- SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations
- (2011) Francesca Lepri et al. HUMAN MUTATION
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