The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous <i>SNURF-SNRPN</i> Variant; Bio-Molecular Analysis and Review of the Literature

The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous <i>SNURF-SNRPN</i> Variant; Bio-Molecular Analysis and Review of the Literature

Prader–Willi syndrome (PWS) is a rare genetic condition characterized by hypotonia, intellectual disability, and hypothalamic dysfunction, causing pituitary hormone deficiencies and hyperphagia, ultimately leading to obesity. PWS is most often caused by the loss of expression of a cluster of genes o...

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Bibliographic Details
Main Authors: Karlijn Pellikaan, Geeske M. van Woerden, Lotte Kleinendorst, Anna G. W. Rosenberg, Bernhard Horsthemke, Christian Grosser, Laura J. C. M. van Zutven, Elisabeth F. C. van Rossum, Aart J. van der Lely, James L. Resnick, Hennie T. Brüggenwirth, Mieke M. van Haelst, Laura C. G. de Graaff
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:Genes
Subjects:
prader–willi syndrome
genetic variation
genomic imprinting
genetics
brain
Online Access:https://www.mdpi.com/2073-4425/12/6/875

Internet

https://www.mdpi.com/2073-4425/12/6/875

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