Genetic & Genomic MedicinemedRxivPreprint
Biallelic variants in SREK1 downregulating SNORD115 and SNORD116 cause a novel Prader-Willi-like syndrome
Sadia Saeed, Anna‐Maria Siegert, Y. C. Loraine Tung…·Giles S.H. Yeo
This study identifies biallelic SREK1 variants causing a Prader-Willi-like syndrome with obesity and hypotonia in consanguineous children.
DOI 10.1101/2025.02.26.24313254