
Comparison of SHOX and associated elements duplications distribution between patients (LÄri-Weill dyschondrosteosis/idiopathic short stature) and population sample
Keywords: ASMT; acetylserotonin O-methyltransferase; CNE; conserved non-coding elements; CNV; copy number variant; DECIPHER; Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources; DGV; Database of Genomic Variants; ISS; idiopathic short