Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

PURPOSE: Short 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. METHODS: We systematically phenotyped 565 patients where common nongenetic causes of short sta...

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發表在:Genet Med
Main Authors: Hauer, Nadine N, Popp, Bernt, Schoeller, Eva, Schuhmann, Sarah, Heath, Karen E, Hisado-Oliva, Alfonso, Klinger, Patricia, Kraus, Cornelia, Trautmann, Udo, Zenker, Martin, Zweier, Christiane, Wiesener, Antje, Abou Jamra, Rami, Kunstmann, Erdmute, Wieczorek, Dagmar, Uebe, Steffen, Ferrazzi, Fulvia, Büttner, Christian, Ekici, Arif B, Rauch, Anita, Sticht, Heinrich, Dörr, Helmuth-Günther, Reis, André, Thiel, Christian T
格式: Artigo
語言:Inglês
出版: Nature Publishing Group 2018
主題:
Original Research Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5993671/
https://ncbi.nlm.nih.gov/pubmed/29758562
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.159
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