https://pubmed.ncbi.nlm.nih.gov/25470569/
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation
We describe a pediatric disorder (which we have termed X-linked acrogigantism [X-LAG]) that is caused by an Xq26.3 genomic duplication and is characterized by...
due togigantismacromegalymutation
https://pmc.ncbi.nlm.nih.gov/articles/PMC12236931/
Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in...
Structural variants (SVs) that disrupt topologically associating domains (TADs) can cause disease by rewiring enhancer-promoter interactions. Duplications...