Opposite modulation of rac1 by mutations in trio is associated with distinct, domain-specific neurodevelopmental disorders

HIGHLIGHTS

• who: Sónia Barbosa from the CentreUniversity of Strasbourg, France have published the Article: Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders, in the Journal: (JOURNAL)
• what: The authors report on an important set of individuals harboring pathogenic TRIO (MIM: 601893) variants, including nonsense and missense mutations. Altogether, the authors propose that, depending on the domain targeted, mutations affect TRIO's function in opposite ways and give rise to two seemingly diverse clinical syndromes: severe developmental delay and macrocephaly (spectrin variants) versus a milder developmental phenotype and . . .
  

   

  

  If you want to have access to all the content you need to log in!

  Thanks :)

  Username or Email

  Password

  Remember me

  Lost your password?

  If you don't have an account, you can create one here.