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R. Werner, H. Merz, W. Birnbaum, L. Marshall, T. Schröder, B. Reiz, J. M. Kavran, T. Bäumer, P. Capetian, O. Hiort: 46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing. In: The Journal of Clinical Endocrinology and Metabolism. Band 100, Nummer 7, Juli 2015, S. E1022–E1029, doi:10.1210/jc.2015-1314, PMID 25927242, PMC 4490300 (freier Volltext).