Association of concomitant congenital diaphragmatic hernia and Hirschsprung's disease with a mutation in the FOXP1 gene: A case report

• Principais autores: Vyacheslav Lenkov (Autor), Jason O. Robertson (Autor)
• Formato: Livro
• Publicado em: Elsevier, 2024-07-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Introduction: Forkhead box protein P1 (FOXP1) is a transcriptional factor that plays a role in gene regulation in a wide array of human tissues. Mutations of this gene result in developmental delay, language deficits, brain, cardiac and urogenital anomalies. Some evidence also connects these mutatio...