Article
The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature.
Genes - 7 Jun 2021
Pellikaan Karlijn, van Woerden Geeske M, Kleinendorst Lotte, Rosenberg Anna G W, Horsthemke Bernhard, Grosser Christian, van Zutven Laura J C M, van Rossum Elisabeth F C, van der Lely Aart J, Resnick James L, Brüggenwirth Hennie T, van Haelst Mieke M, de Graaff Laura C G
Abstract excerpt
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 on chromosome 15q11.2-13. Patients with Prader-Willi-like syndrome (PWLS) display features of the PWS phenotype...
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