Article
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.
Scientific reports - 22 Sept 2017
Hauer Nadine N, Sticht Heinrich, Boppudi Sangamitra, Büttner Christian, Kraus Cornelia, Trautmann Udo, Zenker Martin, Zweier Christiane, Wiesener Antje, Jamra Rami Abou, Wieczorek Dagmar, Kelkel Jaqueline, Jung Anna-Maria, Uebe Steffen, Ekici Arif B, Rohrer Tilman, Reis André, Dörr Helmuth-Günther, Thiel Christian T
Abstract excerpt
Short stature is a common pediatric disorder affecting 3% of the population. However, the clinical variability and genetic heterogeneity prevents the identification of the underlying cause in about 80% of the patients. Recently, heterozygous mutations in the ACAN gene coding for the proteoglycan aggrecan, a main component of the cartilage matrix, were associated with idiopathic short stature. To ascertain the...
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