The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders
Author:
Affiliation:
1. Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany
2. Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany
3. Institute of Human Genetics, RWTH Aachen, Aachen, Germany
Funder
Bundesministerium für Bildung und Forschung
Publisher
Informa UK Limited
Subject
Cancer Research,Molecular Biology
Link
https://www.tandfonline.com/doi/pdf/10.1080/15592294.2018.1514233
Reference31 articles.
1. Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases
2. Molecular and clinical studies in 8 patients with Temple syndrome
3. The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2: Hierarchical Interaction and Distinct Functional Properties as Imprinting Control Centers
4. Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32
5. Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains
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4. Maternally inherited deletion encompassing the RTL1as and MEG8 genes of the human 14q32 imprinted region in a patient with a mild Kagami‐Ogata syndrome phenotype;American Journal of Medical Genetics Part A;2023-05-24
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