Biallelic variants in SREK1 downregulating SNORD115 and SNORD116 cause a Prader-Willi-like syndrome.

ABSTRACT: Biallelic variations in SREK1 reduce SNORD115/116 expression, linking severe obesity and Prader-Willi-like traits, offering genetic and molecular insights into a new form of syndromic obesity.

SUBMITTER: Saeed S 

PROVIDER: S-EPMC12352886 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature