Clinical Features of Three Girls With Mosaic Genome-Wide Paternal Uniparental Isodisomy

Here we describe three subjects with mosaic genome-wide paternal uniparental isodisomy (GWpUPD) each of whom presented initially with overgrowth, hemihyperplasia (HH), and hyperinsulinism (HI). Due to the severity of findings and the presence of additional features, SNP array testing was performed,...

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Библиографические подробности
Главные авторы: Kalish, Jennifer M., Conlin, Laura K., Bhatti, Tricia R., Dubbs, Holly A., Harris, Mary Catherine, Izumi, Kosuke, Mostoufi-Moab, Sogol, Mulchandani, Surabhi, Saitta, Sulagna, States, Lisa J., Swarr, Daniel T., Wilkens, Alisha B., Zackai, Elaine H., Zelley, Kristin, Bartolomei, Marisa S., Nichols, Kim E., Palladino, Andrew A., Spinner, Nancy B., Deardorff, Matthew A.
Формат: Artigo
Язык:Inglês
Опубликовано: 2013
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4082120/
https://ncbi.nlm.nih.gov/pubmed/23804593
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36045
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