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Oestreich, Marc-Alexander; Keller, Fabian; Bovermann, Xenia; Braun, Dominique; Schiller, Rike; Raio, Luigi; Zweier, Christiane; Casaulta, Carmen; Usemann, Jakob; Kidszun, André; Popa-Todirenchi, Mircea-Horia (2024). A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation. Klinische Pädiatrie, 236(2), pp. 145-147. Thieme 10.1055/a-2235-6201
