Clinical overview on RASopathies
Author:
Affiliation:
1. Institute of Human Genetics, University Hospital Magdeburg, Medical Faculty Otto‐von‐Guericke University Magdeburg Germany
Funder
Federal Ministry of Education and Research
Deutsche Forschungsgemeinschaft
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.32015
Reference88 articles.
1. Costello syndrome and hyperinsulinemic hypoglycemia
2. Behavioral Profile in RASopathies
3. Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway
4. Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy
5. Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations
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