RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis

Somatic and germline gain‐of‐function point mutations in RAF, one of the first oncogenes to be discovered in humans, delineate a group of tumor‐prone syndromes known as the RASopathies. In this study, we document the first human phenotype resulting from the germline loss‐of‐function of the proto‐onc...

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Detalles Bibliográficos
Autores principales: Wong, Samantha, Tan, Yu Xuan, Loh, Abigail Yi Ting, Tan, Kiat Yi, Lee, Hane, Aziz, Zainab, Nelson, Stanley F, Özkan, Engin, Kayserili, Hülya, Escande‐Beillard, Nathalie, Reversade, Bruno
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10165362/
https://www.ncbi.nlm.nih.gov/pubmed/37066513
http://dx.doi.org/10.15252/emmm.202217078

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10165362/
https://www.ncbi.nlm.nih.gov/pubmed/37066513
http://dx.doi.org/10.15252/emmm.202217078

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