Partial Paternal Uniparental Disomy of Chromosome 6 in an Infant with Neonatal Diabetes, Macroglossia, and Craniofacial Abnormalities

Neonatal diabetes, which can be transient or permanent, is defined as hyperglycemia that presents within the first month of life and requires insulin therapy. Transient neonatal diabetes mellitus has been associated with abnormalities of the paternally inherited copy of chromosome 6, including dupli...

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Главные авторы: Das, S., Lese, C. M., Song, M., Jensen, J. L., Wells, L. A., Barnoski, B. L., Roseberry, J. A., Camacho, J. M., Ledbetter, D. H., Schnur, R. E.
Формат: Artigo
Язык:Inglês
Опубликовано: The American Society of Human Genetics 2000
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Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1287936/
https://ncbi.nlm.nih.gov/pubmed/11038325
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