Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract

by Weisschuh, Nicole, Aisenbrey, Sabine, Wissinger, Bernd, Riess, Angelika
Published 2012

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

by Czeschik, Johanna Christina, Bauer, Peter, Buiting, Karin, Dufke, Claudia, Guillén-Navarro, Encarna, Johnson, Diana S, Koehler, Udo, López-González, Vanesa, Lüdecke, Hermann-Josef, Male, Alison, Morrogh, Deborah, Rieß, Angelika, Tzschach, Andreas, Wieczorek, Dagmar, Kuechler, Alma
Published 2013