Publication: Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature
Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature
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Hauer, N. N., Popp, B., Taher, L., Vogl, C., et al, & Rauch, A. (2019). Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature. European Journal of Human Genetics, 27(7), 1061–1071. https://doi.org/10.1038/s41431-019-0362-0
Abstract
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Abstract
Height is a heritable and highly heterogeneous trait. Short stature affects 3% of the population and in most cases is genetic in origin. After excluding known causes, 67% of affected individuals remain without diagnosis. To identify novel candidate genes for short stature, we performed exome sequencing in 254 unrelated families with short stature of unknown cause and identified variants in 63 candidate genes in 92 (36%) independent families. Based on systematic characterization of variants and functional analysis including expression
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- Hauer, Nadine N
- Popp, Bernt
- Taher, Leila
- Vogl, Carina
- Rauch, Anita
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Hauer, N. N., Popp, B., Taher, L., Vogl, C., et al, & Rauch, A. (2019). Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature. European Journal of Human Genetics, 27(7), 1061–1071. https://doi.org/10.1038/s41431-019-0362-0
