Health Problems in Adults with Prader–Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature

Prader–Willi syndrome (PWS) is a complex, rare genetic disorder caused by a loss of expression of paternally expressed genes on chromosome 15q11.2-q13. The most common underlying genotypes are paternal deletion (DEL) and maternal uniparental disomy (mUPD). DELs can be subdivided into type 1 (DEL-1)...

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Detalles Bibliográficos
Autores principales: Rosenberg, Anna G. W., Wellink, Charlotte M., Tellez Garcia, Juan M., Pellikaan, Karlijn, Van Abswoude, Denise H., Davidse, Kirsten, Van Zutven, Laura J. C. M., Brüggenwirth, Hennie T., Resnick, James L., Van der Lely, Aart J., De Graaff, Laura C. G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9323859/
https://www.ncbi.nlm.nih.gov/pubmed/35887798
http://dx.doi.org/10.3390/jcm11144033

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9323859/
https://www.ncbi.nlm.nih.gov/pubmed/35887798
http://dx.doi.org/10.3390/jcm11144033

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