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

INTRODUCTION: 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 bil...

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Detalles Bibliográficos
Autores principales: Riedhammer, Korbinian Maria, Siegel, Corinna, Alhaddad, Bader, Montoya, Carmen, Kovacs-Nagy, Reka, Wagner, Matias, Meitinger, Thomas, Hoefele, Julia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5705563/
https://www.ncbi.nlm.nih.gov/pubmed/29226118
http://dx.doi.org/10.3389/fped.2017.00251

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