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
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DOI: 10.3390/genes12060875
Abstract: 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… read more here.
Keywords: snrpn; unique homozygous; prader willi; willi like ... See more keywords
Effects of vitrification on the imprinted gene Snrpn in neonatal placental tissue
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DOI: 10.4103/2096-2924.281851
Abstract: Objective: To investigate the effects of vitrification on the expression of the imprinted gene Snrpn in neonatal placental tissue.Methods: Neonatal placental tissue was collected from women with natural pregnancy (control group) and from women in… read more here.
Keywords: gene snrpn; snrpn; imprinted gene; placental tissue ... See more keywords