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Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and... by Korbinian Maria Riedhammer, Korbinian Maria Riedhammer, Corinna Siegel, Bader Alhaddad, Carmen Montoya, Reka Kovacs-Nagy, Matias Wagner, Matias Wagner, Matias Wagner, Thomas Meitinger, Thomas Meitinger, Julia Hoefele
Published 2017Connect to this object online.
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A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders by Luana Niculescu, Matias Wagner, Dominik S. Westphal, Marcus Fischer, Walter Mihatsch, Anke Prothmann, Thomas Ruzicka, Andreas Wollenberg, Hans Wolff, Heinrich Schmidt, Kathrin A.
Published 2018Connect to this object online.
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