A Male Case of Kagami-Ogata Syndrome Caused by Paternal Unipaternal Disomy 14 as a Result of a Robertsonian Translocation

• Main Authors: Xiaoxue Wang (Author), Hui Pang (Author), Birju A. Shah (Author), Hongcang Gu (Author), Lijun Zhang (Author), Hua Wang (Author)
• Formato: Livro
• Publicado em: Frontiers Media S.A., 2020-03-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Kagami-Ogata syndrome (KOS) is a rare imprinting disorder characterized by skeletal abnormalities, dysmorphic facial features, growth retardation and developmental delay. The genetic etiology of KOS includes paternal uniparental disomy 14 [upd(14)pat], epimutations and microdeletions affecting the m...