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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Eur J Hum Genet
Egile Nagusiak: Kagami, Masayo, Kurosawa, Kenji, Miyazaki, Osamu, Ishino, Fumitoshi, Matsuoka, Kentaro, Ogata, Tsutomu
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2015
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4613461/
https://ncbi.nlm.nih.gov/pubmed/25689926
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.13
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