Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region

被引：0
|
作者：
S. G. Kant
A. M. van der Weij
W. Oostdijk
J. M. Wit
D. O. Robinson
I. K. Temple
D. J. G. Mackay
机构：
[1] Leiden University Medical Center,Center for Human and Clinical Genetics
[2] Leiden University Medical Center,Department of Paediatrics
[3] Salisbury District Hospital,Wessex Regional Genetics Laboratory
[4] University of Southampton,Human Genetics Division
[5] The Princess Anne Hospital,Wessex Clinical Genetics Service
来源：
Human Genetics | 2005年 / 117卷
关键词：
Differentially Methylated Region; Imprint Locus; Neonatal Diabetes Mellitus; Biparental Inheritance; Transient Neonatal Diabetes Mellitus;
D O I：
暂无
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学科分类号：
摘要：
Transient neonatal diabetes mellitus (TNDM) is associated with paternal over-expression of an imprinted locus on chromosome 6q24, which contains one differentially methylated region (DMR); maternal demethylation at the DMR accounts for ~20% of cases. Here we report female monozygous triplets, two of whom have TNDM arising from loss of maternal methylation within the TNDM DMR.
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页码：398 / 401
页数：3
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