The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas

BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal dominant condition caused by inactivating mutations of the NF1 gene. The wide allelic heterogeneity of this condition, with more than 3,000 pathogenic variants reported so far, is paralleled by its high clinical variability, which is observe...

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Detalles Bibliográficos
Autores principales: Trevisson, Eva, Morbidoni, Valeria, Forzan, Monica, Daolio, Cecilia, Fumini, Valentina, Parrozzani, Raffaele, Cassina, Matteo, Midena, Edoardo, Salviati, Leonardo, Clementi, Maurizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503065/
https://www.ncbi.nlm.nih.gov/pubmed/30843352
http://dx.doi.org/10.1002/mgg3.616

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503065/
https://www.ncbi.nlm.nih.gov/pubmed/30843352
http://dx.doi.org/10.1002/mgg3.616

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