article_metadata: Korbinian Maria Riedhammer Corinna Siegel Bader Alhaddad Carmen Montoya Reka Kovacs-Nagy Matias Wagner Thomas Meitinger Julia Hoefele
article_metadata: 10.3389/fped.2017.00251
article_metadata: Front Pediatr
article_metadata: 2017 Nov 24;5:251.
article_metadata: cakut pbx1 developmental delay dysplastic kidneys hypoplastic clavicles
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/29226118/
article_metadata: Case Reports
article_metadata: PMC5705563
article_metadata: 29226118
article_metadata: 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
article_metadata: 2017