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

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...

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Detalles Bibliográficos
Autores principales: Wang, Xiaoxue, Pang, Hui, Shah, Birju A., Gu, Hongcang, Zhang, Lijun, Wang, Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7076151/
https://www.ncbi.nlm.nih.gov/pubmed/32211354
http://dx.doi.org/10.3389/fped.2020.00088

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7076151/
https://www.ncbi.nlm.nih.gov/pubmed/32211354
http://dx.doi.org/10.3389/fped.2020.00088

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