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Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features
Storbeck, Markus, Horsberg Eriksen, Beate, Unger, Andreas, Hölker, Irmgard, Aukrust, Ingvild, Martínez-Carrera, Lilian A, Linke, Wolfgang A, Ferbert, Andreas, Heller, Raoul, Vorgerd, Matthias, Houge,Language:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/ejhg.2017.98
Date:
June, 2017
File:
PDF, 3.11 MB
english, 2017