Genotype and phenotype spectrum of NRAS germline variants

Genotype and phenotype spectrum of NRAS germline variants

© 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved. RASopathies comprise a group of disorders clinically characterized by short stature, heart defects, facial dysmorphism, and varying degrees of intellectual disability and cancer predisposition. They are caused by germ...

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Main Authors: Altmüller, F., Lissewski, C., Bertola, D., Flex, E., Stark, Z., Spranger, S., Baynam, Gareth, Buscarilli, M., Dyack, S., Gillis, J., Yntema, H., Pantaleoni, F., Van Loon, R., MacKay, S., Mina, K., Schanze, I., Tan, T., Walsh, M., White, S., Niewisch, M., García-Miñaúr, S., Plaza, D., Ahmadian, M., Cavé, H., Tartaglia, M., Zenker, M.
Format: Journal Article
Published: Nature Publishing Group 2017
Online Access:http://hdl.handle.net/20.500.11937/71161

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