Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy.

Uniparental disomy has recently been recognized to cause human disorders, including Prader-Willi syndrome (PWS). We describe a particularly instructive case which raises important issues concerning the mechanisms producing uniparental disomy and whose evaluation provides evidence that trisomy may pr...

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Hlavní autoři: Cassidy, S B, Lai, L W, Erickson, R P, Magnuson, L, Thomas, E, Gendron, R, Herrmann, J
Médium: Artigo
Jazyk:Inglês
Vydáno: 1992
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682792/
https://ncbi.nlm.nih.gov/pubmed/1357962
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