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Diana Ponce
Diana Ponce
University of Chile
Short stature
Genetic heterogeneity
Cardiofaciocutaneous syndrome
RASopathy
MAPK/ERK pathway
2
Papers
7
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RAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis
2019
American Journal of Medical Genetics Part A
Fernando Rodríguez
Diana Ponce
Francisco J. Berward
Bernardita Lopetegui
Fernando Cassorla
Mariana Aracena
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Citations (5)
Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant
2018
Journal of pediatric genetics
Fernando Rodríguez
Carla Vallejos
Victor M. Bolanos-Garcia
Diana Ponce
Nancy Unanue
Francisco Garay
Fernando Cassorla
Mariana Aracena
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Citations (2)
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