One <i>NF1</i> Mutation may Conceal Another

One <i>NF1</i> Mutation may Conceal Another

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with complete penetrance but high variable expressivity. NF1 is caused by loss-of-function mutations in the <i>NF1</i> gene, a negative regulator of the RAS-MAPK pathway. The <i>NF1</i> gene has one of the highes...

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Bibliographic Details
Main Authors: Laurence Pacot, Cyril Burin des Roziers, Ingrid Laurendeau, Audrey Briand-Suleau, Audrey Coustier, Théodora Mayard, Camille Tlemsani, Laurence Faivre, Quentin Thomas, Diana Rodriguez, Sophie Blesson, Hélène Dollfus, Yvon-Gauthier Muller, Béatrice Parfait, Michel Vidaud, Brigitte Gilbert-Dussardier, Catherine Yardin, Benjamin Dauriat, Christian Derancourt, Dominique Vidaud, Eric Pasmant
Format: Article
Language:English
Published: MDPI AG 2019-08-01
Series:Genes
Subjects:
de novo variant
Legius syndrome
neurofibromatosis type 1
<i>NF1</i>
<i>SPRED1</i>
Online Access:https://www.mdpi.com/2073-4425/10/9/633

Internet

https://www.mdpi.com/2073-4425/10/9/633

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