Publication: Rare copy number variants are a common cause of short stature
Rare copy number variants are a common cause of short stature
Date
Date
Date
Citations
Zahnleiter, D., Uebe, S., Ekici, A. B., Hoyer, J., Wiesener, A., Wieczorek, D., Kunstmann, E., Reis, A., Doerr, H.-G., Rauch, A., & Thiel, C. T. (2013). Rare copy number variants are a common cause of short stature. PLoS Genetics, 9(3), e1003365. https://doi.org/10.1371/journal.pgen.1003365
Abstract
Abstract
Abstract
Human growth has an estimated heritability of about 80%-90%. Nevertheless, the underlying cause of shortness of stature remains unknown in the majority of individuals. Genome-wide association studies (GWAS) showed that both common single nucleotide polymorphisms and copy number variants (CNVs) contribute to height variation under a polygenic model, although explaining only a small fraction of overall genetic variability in the general population. Under the hypothesis that severe forms of growth retardation might also be caused by majo
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Creators (Authors)
- Zahnleiter, Diana
- Uebe, Steffen
- Ekici, Arif B
- Hoyer, Juliane
- Wiesener, Antje
- Wieczorek, Dagmar
- Kunstmann, Erdmute
- Reis, André
- Doerr, Helmuth-Guenther
- Rauch, Anita
- Thiel, Christian T
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Citations
Zahnleiter, D., Uebe, S., Ekici, A. B., Hoyer, J., Wiesener, A., Wieczorek, D., Kunstmann, E., Reis, A., Doerr, H.-G., Rauch, A., & Thiel, C. T. (2013). Rare copy number variants are a common cause of short stature. PLoS Genetics, 9(3), e1003365. https://doi.org/10.1371/journal.pgen.1003365
