Short stature is a frequent disorder in the pediatric population and can be caused by multiple factors. In the last few years. the introduction of Next Generation Sequencing (NGS) in the molecular diagnostic workflow led to the discovery of mutations in novel genes causing short stature including heterozygous mutations in ACAN gene. It encodes for aggrecan. https://www.cookieskitchens.com/product-category/collagen/
Collagen
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