Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome)

Paternal uniparental disomy 14 (UPD(14)pat) and epimutations and microdeletions affecting the maternally derived 14q32.2 imprinted region lead to a unique constellation of clinical features such as facial abnormalities, small bell-shaped thorax with a coat-hanger appearance of the ribs, abdominal wa...

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Detalles Bibliográficos
Autores principales: Kagami, Masayo, Kurosawa, Kenji, Miyazaki, Osamu, Ishino, Fumitoshi, Matsuoka, Kentaro, Ogata, Tsutomu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613461/
https://www.ncbi.nlm.nih.gov/pubmed/25689926
http://dx.doi.org/10.1038/ejhg.2015.13

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613461/
https://www.ncbi.nlm.nih.gov/pubmed/25689926
http://dx.doi.org/10.1038/ejhg.2015.13

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