The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders

Temple syndrome (TS14) is a rare imprinting disorder caused by genetic and epigenetic alterations on chromosome 14q32. A subset of these patients shows an imprinting defect (ID) where the paternal allele harbors a maternal epigenotype thus silencing the paternally expressed genes and leading to an i...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Epigenetics
Prif Awduron: Beygo, Jasmin, Mertel, Claudia, Kaya, Sabine, Gillessen-Kaesbach, Gabriele, Eggermann, Thomas, Horsthemke, Bernhard, Buiting, Karin
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Taylor & Francis 2018
Pynciau:
Research Paper
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6224218/
https://ncbi.nlm.nih.gov/pubmed/30227764
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/15592294.2018.1514233
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