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

Rosenberg, A.; Wellink, Charlotte; T. Téllez Garcia, J.; Pellikaan, K.; H van Abswoude, Denise; Davidse, Kirsten; V. van Zutven, L.; Brüggenwirth, H.; Resnick, J.; J. van der Lely, A.; D. de Graaff, L.

doi:10.3390/jcm11144033

Public

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

Shared by NobleBlocks on Jul 1, 2022 • 12:00 AM UTC

Authors:

A. Rosenberg

Charlotte Wellink

J. T. Téllez Garcia

Abstract

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) ...

Subject

Medicine

Research Assistant

AI chat, annotations, notes & similar papers

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!