Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.

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第一作者： Fanny,Kortüm

第一单位： Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

作者： Fanny,Kortüm ^[1] ; Marcello,Niceta ^[2] ; Monia,Magliozzi ^[2] ; Katja,Dumic Kubat ^[3] ; Stephen P,Robertson ^[4] ; Angelica,Moresco ^[5] ; Maria Lisa,Dentici ^[2] ; Anwar,Baban ^[6] ; Chiara,Leoni ^[7] ; Roberta,Onesimo ^[7] ; Maria Gabriela,Obregon ^[5] ; Maria Cristina,Digilio ^[2] ; Giuseppe,Zampino ^[7] ; Antonio,Novelli ^[2] ; Marco,Tartaglia ^[2] ; Kerstin,Kutsche ^[8]

作者单位： Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. ^[1] Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. ^[2] University Hospital Centre Zagreb, Zagreb, Croatia. ^[3] Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand. ^[4] Paediatric Hospital Dr. Juan P. Garrahan, Buenos Aires, Argentina. ^[5] The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart - ERN GUARD-Heart, Pediatric Cardiology and Arrhythmia/Syncope Units, Bambino Gesù Children Hospital and Research Institute, Rome, Italy. ^[6] Center of Rare Diseases and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy. ^[7] Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address: kkutsche@uke.de. ^[8]

关键词 ABCC9 Cantú syndrome Coarse face Gain-of-function Potassium channel Zimmermann-Laband syndrome