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