Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome

MYCN, a member of the MYC proto-oncogene family, regulates cell growth and proliferation. Somatic mutations of MYCN are identified in various tumors, and germline loss-of-function variants are responsible for Feingold syndrome, characterized by microcephaly. In contrast, one megalencephalic patient...

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Detalles Bibliográficos
Autores principales: Nishio, Yosuke, Kato, Kohji, Tran Mau-Them, Frederic, Futagawa, Hiroshi, Quélin, Chloé, Masuda, Saori, Vitobello, Antonio, Otsuji, Shiomi, Shawki, Hossam H., Oishi, Hisashi, Thauvin-Robinet, Christel, Takenouchi, Toshiki, Kosaki, Kenjiro, Takahashi, Yoshiyuki, Saitoh, Shinji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10550848/
https://www.ncbi.nlm.nih.gov/pubmed/37710961
http://dx.doi.org/10.1016/j.xhgg.2023.100238

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10550848/
https://www.ncbi.nlm.nih.gov/pubmed/37710961
http://dx.doi.org/10.1016/j.xhgg.2023.100238

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