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

• Main Authors: Magdalena Klaniewska (Author), Krystian Toczewski (Author), Anna Rozensztrauch (Author), Michal Bloch (Author), Agata Dzielendziak (Author), Piotr Gasperowicz (Author), Ryszard Slezak (Author), Rafał Ploski (Author), Małgorzata Rydzanicz (Author), Robert Smigiel (Author), Dariusz Patkowski (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...