Ontology highlight
ABSTRACT:
SUBMITTER: Hauer NN
PROVIDER: S-EPMC5993671 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
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 Reis André A Thiel Christian T CT
Genetics in medicine : official journal of the American College of Medical Genetics 20171012 6
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 g ...[more]