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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

Document type:
Zeitschriftenaufsatz
Author(s):
Riedhammer, Korbinian Maria; Siegel, Corinna; Alhaddad, Bader; Montoya, Carmen; Kovacs-Nagy, Reka; Wagner, Matias; Meitinger, Thomas; Hoefele, Julia
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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