Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

@inproceedings{Hauer2017GeneticSC,
  title={Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature},
  author={Nadine N Hauer and Heinrich Sticht and Sangamitra Boppudi and Christian B{\"u}ttner and Christine Kraus and Udo Trautmann and Martin Zenker and Christiane Zweier and Antje Wiesener and Rami Abou Jamra and Dagmar Wieczorek and Jaqueline Kelkel and A Jung and Steffen Uebe and Arif B. Ekici and Tilman Robert Rohrer and Andr{\'e} Reis and H. G. D{\"o}rr and Christian T Thiel},
  booktitle={Scientific Reports},
  year={2017}
}
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 prevalence of ACAN mutations and broaden the phenotypic spectrum in patients with… CONTINUE READING
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