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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Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: The American Society of Human Genetics 2000
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1287936/
https://ncbi.nlm.nih.gov/pubmed/11038325
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