Biallelic variants in SREK1 downregulating SNORD115 and SNORD116 cause a Prader-Willi-like syndrome.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 40549565.
- Also identified by DOI 10.1172/JCI191008 and PMC identifier 12352886.
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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.
Medical subject headings
- Alleles
- Down-Regulation
- Prader-Willi Syndrome
- RNA, Small Nucleolar