A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome

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Authors: Isabel Schüle, Urs Berger, Uta Matysiak, Gunda Ruzaike, Brigitte Stiller, Martin Pohl, Ute Spiekerkoetter, Ekkehart Lausch, Sarah C. Grünert, Miriam Schmidts

Journal title: Genes

Journal number: 12/6

Journal publisher: Multidisciplinary Digital Publishing Institute (MDPI)

Published year: 2021

Published pages: 879

DOI identifier: 10.3390/genes12060879

ISSN: 2073-4425