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

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 agg...

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Vydáno v:Sci Rep
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2017
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5610314/
https://ncbi.nlm.nih.gov/pubmed/28939912
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-12465-6
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