Article
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene.
Birth defects research - 15 Jul 2022
Ruscitti Federica, Cerminara Maria, Iascone Maria, Pezzoli Laura, Rosti Giulia, Romano Ferruccio, Ronchetto Patrizia, Martucciello Giuseppe, Buratti Silvia, Buffelli Francesca, Bocciardi Renata, Puliti Aldamaria, Divizia Maria Teresa
Abstract excerpt
INTRODUCTION: PBX1 encodes the pre-B cell leukemia factor 1, a Three Amino acid Loop Extension (TALE) transcription factor crucial to regulate basic developmental processes. PBX1 loss-of-function variants have been initially described in association with renal malformations in both isolated and syndromic forms. CASE REPORT: Herein, we report a male infant presenting multiple organ malformations (cleidosternal...
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