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 Hypoplastic Clavicles

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Document type:: Zeitschriftenaufsatz
Author(s):: Riedhammer, Korbinian Maria; Siegel, Corinna; Alhaddad, Bader; Montoya, Carmen; Kovacs-Nagy, Reka; Wagner, Matias; Meitinger, Thomas; Hoefele, Julia
Title:: 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 Hypoplastic Clavicles
Journal title:: Frontiers in Pediatrics
Year:: 2017
Journal volume:: 5
Fulltext / DOI:: doi:10.3389/fped.2017.00251
Publisher:: Frontiers Media SA
E-ISSN:: 2296-2360
Date of publication:: 24.11.2017
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