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Titel:

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.

Dokumenttyp:
Journal Article; Article
Autor(en):
Riedhammer, Korbinian Maria; Siegel, Corinna; Alhaddad, Bader; Montoya, Carmen; Kovacs-Nagy, Reka; Wagner, Matias; Meitinger, Thomas; Hoefele, Julia
Abstract:
Congenital anomalies of the kidney and urinary tract (CAKUT) represent the primary cause of chronic kidney disease in children. Many genes have been attributed to the genesis of this disorder. Recently, haploinsufficiency of PBX1 caused by microdeletions has been shown to result in bilateral renal hypoplasia and other organ malformations.Here, we report on a 14-year-old male patient with congenital bilateral dysplastic kidneys, cryptorchidism, hypoplastic clavicles, developmental delay, impaired...     »
Zeitschriftentitel:
Front Pediatr
Jahr:
2017
Band / Volume:
5
Seitenangaben Beitrag:
251
Sprache:
eng
Volltext / DOI:
doi:10.3389/fped.2017.00251
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/29226118
TUM Einrichtung:
Fachgebiet Nephrologie (Prof. Heemann); Institut für Humangenetik
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