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Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

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

Frontiers in Pediatrics ◽

10.3389/fped.2017.00251 ◽

2017 ◽

Vol 5 ◽

Cited By ~ 4

Author(s):

Korbinian Maria Riedhammer ◽

Corinna Siegel ◽

Bader Alhaddad ◽

Carmen Montoya ◽

Reka Kovacs-Nagy ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

De Novo ◽

Frameshift Deletion ◽

Whole Exome ◽

Novo 7 ◽

Dysplastic Kidneys