RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations

PURPOSE: Noonan syndrome and related disorders are genetic conditions affecting 1:1000–2000 individuals. Variants causing hyperactivation of the RAS/MAPK pathway lead to phenotypic overlap between syndromes, in addition to an increased risk of pediatric tumors. DNA sequencing methods have been optim...

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Detalles Bibliográficos
Autores principales: Chaves Rabelo, Natana, Gomes, Maria Eduarda, de Oliveira Moraes, Isabelle, Cantagalli Pfisterer, Juliana, Loss de Morais, Guilherme, Antunes, Deborah, Caffarena, Ernesto Raúl, Llerena Jr, Juan, Gonzalez, Sayonara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2022
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9595068/
https://www.ncbi.nlm.nih.gov/pubmed/36304179
http://dx.doi.org/10.2147/TACG.S372761

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