Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report

The MYCN oncogene encodes a transcription factor belonging to the MYC family. It is primarily expressed in normal developing embryos and is thought to be critical in brain and other neural development. Loss-of-function variants resulting in haploinsufficiency of MYCN, which encodes a protein with a...

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Detalles Bibliográficos
Autores principales: Klaniewska, Magdalena, Toczewski, Krystian, Rozensztrauch, Anna, Bloch, Michal, Dzielendziak, Agata, Gasperowicz, Piotr, Slezak, Ryszard, Ploski, Rafał, Rydzanicz, Małgorzata, Smigiel, Robert, Patkowski, Dariusz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8674716/
https://www.ncbi.nlm.nih.gov/pubmed/34926353
http://dx.doi.org/10.3389/fped.2021.783553

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8674716/
https://www.ncbi.nlm.nih.gov/pubmed/34926353
http://dx.doi.org/10.3389/fped.2021.783553

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