Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome

Abstract Background Temple syndrome (TS14) is a rare imprinting disorder caused by maternal UPD14, imprinting defects or paternal microdeletions which lead to an increase in the maternal expressed genes and a silencing the paternally expressed genes in the 14q32 imprinted domain. Classical TS14 phen...

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Bibliographic Details
Main Authors: Neus Baena, David Monk, Cinthia Aguilera, Mario F. Fraga, Agustín F. Fernández, Elisabeth Gabau, Raquel Corripio, Nuria Capdevila, Juan Pablo Trujillo, Anna Ruiz, Miriam Guitart
Format: Article
Language:English
Published: BMC 2024-05-01
Series:Clinical Epigenetics
Subjects:
Temple syndrome (TS14)
Methylation
DLK1
Deletion
DMR
Online Access:https://doi.org/10.1186/s13148-024-01652-8

Internet

https://doi.org/10.1186/s13148-024-01652-8

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