New mutations associated with Hirschsprung disease

• Main Authors: Marta Lorente-Ros (Author), Ane Miren Andrés (Author), Alba Sánchez-Galán (Author), Cinthia Amiñoso (Author), Sixto García (Author), Pablo Lapunzina (Author), Jesús Solera-García (Author)
• Format: Book
• Published: Elsevier, 2020-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Introduction: Hirschsprung Disease is caused by an impairment in cell migration from the neural crest to the gastrointestinal tract, resulting in an absence of neurons in the myenteric plexus. Many mutations in several genes have been associated to Hirschsprung disease; most of them affecting the RE...