A novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments
Orphanet J Rare Dis. 2024 Dec 18;19(1):465. doi: 10.1186/s13023-024-03430-4. ABSTRACT BACKGROUND: Meier-Gorlin syndrome (MGORS) is a rare autosomal inherited form of primordial dwarfism. Pathogenic variants …