Article
Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene.
Journal of clinical research in pediatric endocrinology - 1 Jan 2013
Boyraz Mehmet, Ulucan Korkut, Taşkın Necati, Akçay Teoman, Flanagan Sarah E, Mackay Deborah J G
Abstract excerpt
Neonatal diabetes mellitus (NDM) is a rare form of diabetes that presents within the first six months of life. Nearly 70% of these cases have loss of methylation at the differentially methylated region on chromosome 6q24. To describe the findings in a Turkish male patient with NDM caused by a loss of methylation at chromosome 6q24 and three novel homozygous mutations in the ZFP57 gene, methylation-specific PCR...
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