Diagnosis and Management of Beckwith-Wiedemann Syndrome

• Main Authors: Kathleen H. Wang (Author), Jonida Kupa (Author), Kelly A. Duffy (Author), Jennifer M. Kalish (Author)
• Formato: Livro
• Publicado em: Frontiers Media S.A., 2020-01-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder that presents with a wide spectrum of clinical features including overgrowth, abdominal wall defects, macroglossia, neonatal hypoglycemia, and predisposition to embryonal tumors. It is associated with genetic and epigenetic cha...