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GENOTYPE-PHENOTYPE CORRELATIONS IN 304 PATIENTS WITH AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE (ARPKD) AND PKHD1 VARIANTS

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第一作者: Burgmaier, Kathrin
作者单位: Univ Hosp Cologne, Dept Pediat, Cologne, Germany [1] Univ Cologne, Fac Med, Cologne, Germany [2] Med Genet Mainz, Limbach Genet, Mainz, Germany [3] Pirogov Russian Natl Res Med Univ, Dept Inherited & Acquired Kidney Dis, Res Clin Inst Pediat NA [4] Childrens Mem Hlth Inst, Warsaw, Poland [5] Univ Med Ctr Hamburg Eppendorf, Univ Childrens Hosp, Hamburg, Germany [6] Sci Zabrze, Dept Pediat, Fac Med, Sum Katowice, Poland [7] Osped Maggiore Policlin, Fdn Irccs Ca Granda, Pediat Nephrol Dialysis & Transplant Unit, Milan [8] Humboldtuniv Berlin, Charite Univ Berlin, Dept Pediat Nephrol, Corp Member Freie Univ Berlin [9] Med Univ Lublin, Dept Pediat Nephrol, Lublin, Poland [10] Rwth Univ Hosp Aachen, Inst Human Genet, Aachen, Germany [11] Katholieke Univ Leuven, Dept Dev & Regenerat, Pkd Res Grp, Leuven, Belgium [12] Univ Heidelberg Hosp, Div Pediat Nephrol, Ctr Pediat & Adolescent Med, Heidelberg, Germany [13] Bambino Gesu Childrens Hosp Irccs, Div Nephrol, Dept Pediat Subspecialties, Rome, Italy [14] Klin Kinder & Jugendmed, Klinikum Dritter Orden, Munich, Germany [15] Univ Cathoique, St Luc Acad Hosp, Dept Pediat, Louvain Med Sch, Brussels, Belgium [16] Jagiellonian Univ Med Coll, Dept Pediat Nephrol & Hypertens, Fac Med, Krakow, Poland [17] Univ Cologne, Univ Hosp Cologne, Fac Med, Ctr Mol Med Cologne, Cologne, Germany [18] Istanbul Univ Cerrahpasa, Cerrahpasa Med Sch, Dept Pediat Nephrol, Istanbul, Turkey [19] Ctr Reference Nephrol Pediat Sud, Clin Lesperance, Montegnee, Belgium [20] Childrens Hosp St Elisabeth & St Barbara, Halle, Germany [21] Hosp Civils Lyon, Pediat Nephrol Unit, Ctr Reference Malad Renales Rares, Hop Femme Mere Enfant [22] Univ Hosp, Dr Hauner Childrens Hosp, Dept Pediat, Lmu, Munich, Germany [23] Childrens Hosp Munich Schwabing, Kfh Ctr Pediat Nephrol, Munich, Germany [24] Hop Necker Enfants Malad, Dept Pediat Nephrol & Kidney Transplantat, Paris, France [25] Ctr Hosp Porto, Ctr Maternoinfantil Norte, Porto, Portugal [26]
发布时间 2021-12-08
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Pediatric nephrology: journal of the International Pediatric Nephrology Association

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