Publications by authors named "Jaqueline Kelkel"
Article Synopsis
- - Short stature affects around 3% of children, but 80% of cases remain unexplained due to clinical variability and genetic differences.
- - Recent research found that mutations in the ACAN gene, which is linked to cartilage development, may contribute to idiopathic short stature in some patients.
- - In a study involving 428 families, 1.4% showed ACAN mutations, indicating that these genetic changes could be a common factor in both isolated and inherited cases of short stature.
