Publication: Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
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Hauer, N. N., Popp, B., Schoeller, E., et al, & Rauch, A. (2018). Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature. Genetics in Medicine, 20(6), 630–638. https://doi.org/10.1038/gim.2017.159
Abstract
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Abstract
PurposeShort stature is a common condition of great concern to patients and their families. Mostly genetic in origin, the underlying cause often remains elusive due to clinical and genetic heterogeneity.MethodsWe systematically phenotyped 565 patients where common nongenetic causes of short stature were excluded, selected 200 representative patients for whole-exome sequencing, and analyzed the identified variants for pathogenicity and the affected genes regarding their functional relevance for growth.ResultsBy standard targeted diagno
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- Hauer, Nadine N
- Popp, Bernt
- Schoeller, Eva
- Rauch, Anita
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Hauer, N. N., Popp, B., Schoeller, E., et al, & Rauch, A. (2018). Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature. Genetics in Medicine, 20(6), 630–638. https://doi.org/10.1038/gim.2017.159
