Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation

Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation

Prader-Willi syndrome (PWS) is a rare disease caused by a lack of expression of inherited imprinted genes in the paternally derived Prader-Willi critical region on chromosome 15q11.2-q13. It is characterized by poor feeding and hypotonia in infancy, intellectual disability, behavioral abnormalities,...

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Bibliographic Details
Main Authors: Carolina Maya-González, Sandra Wessman, Kristina Lagerstedt-Robinson, Fulya Taylan, Bianca Tesi, Ekaterina Kuchinskaya, W. Glenn McCluggage, Anna Poluha, Stefan Holm, Ricard Nergårdh, Teresita Díaz De Ståhl, Charlotte Höybye, Giorgio Tettamanti, Angelica Maria Delgado-Vega, Anna Skarin Nordenvall, Ann Nordgren
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-07-01
Series:Frontiers in Medicine
Subjects:
Prader-Willi syndrome
ovarian tumor
germ-cell tumor
cancer predisposition
loss-of-imprinting
imprinting relaxation
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2023.1172565/full

Internet

https://www.frontiersin.org/articles/10.3389/fmed.2023.1172565/full

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