PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Pauline Le Tanno,Véronique Satre,Hervé Sartelet,Caroline Bosson,Ida Vogel,Françoise Devillard ,Radu Harbuz,Pierre F Ray ,Marie Bidart,Laura Bernardini,Florence Amblard,Karl Hackmann,Pierre‐Simon Jouk ,Gemma Poke,Fitsum Guebre-Egziabher,Maria C Digilio ,Gaëlle Vieville ,Julie Breton,Maria Antonietta Pisanti,Luisa Mackenroth,Rachel Beddow,Alexia Apostolou,Frédérique Bena ,Antonio Novelli,Siv Fokstuen,Rikke Christensen,Sylvie Jaillard,S Odent ,Klaus Dieterich,Charles Coutton

doi:10.1136/jmedgenet-2016-104435

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Pauline Le Tanno, Véronique Satre + Show 28 more

https://doi.org/10.1136/jmedgenet-2016-104435

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Journal: Journal of Medical Genetics	Publication Date: Mar 7, 2017
Citations: 48

Affiliation: Centre Hospitalier Universitaire de Grenoble, Université Grenoble Alpes, Institute for Advanced Biosciences, Aarhus University Hospital, Clinatec, Casa Sollievo della Sofferenza, Istituti di Ricovero e Cura a Carattere Scientifico, University Hospital Carl Gustav Carus, Bambino Gesù Children's Hospital, Fatebenefratelli Hospital, University Hospital of Geneva, University of Rennes, Centre Hospitalier Universitaire de Rennes, Hôpital Nord

#Congenital Anomalies Of The Kidney And Urinary Tract #Fetal Kidneys + Show 8 more

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Abstract

BackgroundCongenital anomalies of the kidney and urinary tract (CAKUT) represent a significant healthcare burden since it is the primary cause of chronic kidney in children. CNVs represent a recurrent molecular...

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