第一单位：
Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
作者：
Marialetizia,Motta [1]
;
Maja,Solman [2]
;
Adeline A,Bonnard [3]
;
Alma,Kuechler [4]
;
Francesca,Pantaleoni [1]
;
Manuela,Priolo [5]
;
Balasubramanian,Chandramouli [6]
;
Simona,Coppola [7]
;
Simone,Pizzi [1]
;
Erika,Zara [8]
;
Marco,Ferilli [1]
;
Hülya,Kayserili [9]
;
Roberta,Onesimo [10]
;
Chiara,Leoni [10]
;
Julia,Brinkmann [11]
;
Yoann,Vial [3]
;
Susanne B,Kamphausen [11]
;
Cécile,Thomas-Teinturier [12]
;
Anne,Guimier [13]
;
Viviana,Cordeddu [14]
;
Laura,Mazzanti [15]
;
Giuseppe,Zampino [16]
;
Giovanni,Chillemi [17]
;
Martin,Zenker [4]
;
Hélène,Cavé [3]
;
Jeroen,den Hertog [2]
;
Marco,Tartaglia [1]
作者单位：
Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
[1]
Hubrecht Institute-KNAW and University Medical Center Utrecht, 3584 Utrecht, The Netherlands.
[2]
Département de Génétique, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, 75019 Paris, France.;INSERM UMR 1131, Institut de Recherche Saint-Louis, Université de Paris, 75010 Paris, France.
[3]
Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45147 Essen, Germany.
[4]
UOSD Genetica Medica, Grandeospedale Metropolitano "Bianchi-Melacrino-Morelli", 89124 Reggio Calabria, Italia.
[5]
Super Computing Applications and Innovation, CINECA, 40033 Bologna, Italy.
[6]
National Centre Rare Diseases, Istituto Superiore di Sanità, 00161 Rome, Italy.
[7]
Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.;Department of Biology and Biotechnology "Charles Darwin", Sapienza University of Rome, 00185 Rome, Italy.
[8]
Genetic Diseases Evaluation Center, Medical Genetics Department, Koç University School of Medicine, İstanbul 34010, Turkey.
[9]
Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy.
[10]
Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany.
[11]
Department of Pediatric Endocrinology, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Hôpital Bicêtre, 94270 Le Kremlin Bicêtre, France.;INSERM UMR 1018, Cancer and Radiation Team, CESP, 94800 Villejuif, France.
[12]
Service de Médecine Genomique des Maladies Rares, CRMR Anomalies du développement, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, 75015 Paris, France.
[13]
Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
[14]
Alma Mater Studiorum, University of Bologna, 40125 Bologna, Italy.
[15]
Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy.;Department of Woman and Child Health and Public Health, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
[16]
Department for Innovation in Biological, Agro-food and Forest systems, Università della Tuscia, 01100 Viterbo, Italy.;Istituto di Biomembrane, Bioenergetica e Biotecnologie Molecolari, Centro Nazionale delle Ricerche, 70126 Bari, Italy.
[17]
DOI
10.1093/hmg/ddac071
PMID
35348676
发布时间
2025-11-12
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