Article

Biallelic variants in<i>SREK1</i>downregulating<i>SNORD115</i>and<i>SNORD116</i>cause a novel Prader-Willi-like syndrome

2025-02-28

Abstract excerpt

<h4>ABSTRACT</h4> Up to 10% of patients with severe early-onset obesity carry pathogenic variants in known obesity-related genes, mostly affecting the leptin-melanocortin pathway. Studying children with severe obesity from consanguineous populations provides a unique opportunity to uncover novel molecular mechanisms. Using whole-exome sequencing, followed by a rigorous analytical and filtration strategy, we identi...

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Literature Corpus work: 07ddb149-dbdb-5fdd-8659-c8bff023a0ba
DOI: 10.1101/2025.02.26.24313254

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Biallelic variants in<i>SREK1</i>downregulating<i>SNORD115</i>and<i>SNORD116</i>cause a novel Prader-Willi-like syndromeDOI 10.1101/2025.02.26.24313254Read

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