Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith–Wiedemann syndrome and ovarian steroid cell tumour

Uniparental disomy (UPD) of single chromosomes is a well-known molecular aberration in a group of congenital diseases commonly known as imprinting disorders (IDs). Whereas maternal and/or paternal UPD of chromosomes 6, 7, 11, 14 and 15 are associated with specific IDs (Transient neonatal diabetes me...

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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Gogiel, Magdalena, Begemann, Matthias, Spengler, Sabrina, Soellner, Lukas, Göretzlehner, Ulf, Eggermann, Thomas, Strobl-Wildemann, Gertrud
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2013
Sujets:
Short Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3722953/
https://ncbi.nlm.nih.gov/pubmed/23188046
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.259
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