Publications:

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

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Hauer, Nadine N NN; Popp, Bernt B; Schoeller, Eva E; Schuhmann, Sarah S; Heath, Karen E KE; Hisado-Oliva, Alfonso A; Klinger, Patricia P; Kraus, Cornelia C; Trautmann, Udo U; Zenker, Martin M; Zweier, Christiane C; Wiesener, Antje A; Abou Jamra, Rami R; Kunstmann, Erdmute E; Wieczorek, Dagmar D; Uebe, Steffen S; Ferrazzi, Fulvia F; Büttner, Christian C; Ekici, Arif B AB; Rauch, Anita A; Sticht, Heinrich H; Dörr, Helmuth-Günther HG; Reis, André A; Thiel, Christian T CT

Publication Date: 2018-06

Variant appearance in text: NF1: 2320A>C; Thr774Pro

PubMed Link: 29758562

Variant Present in the following documents:

• Main text
• gim2017159a.pdf

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