作者：
Luca,Pannone [1]
;
Gianfranco,Bocchinfuso [2]
;
Elisabetta,Flex [3]
;
Cesare,Rossi [4]
;
Giuseppina,Baldassarre [2]
;
Christina,Lissewski [5]
;
Francesca,Pantaleoni [6]
;
Federica,Consoli [7]
;
Francesca,Lepri [1]
;
Monia,Magliozzi [8]
;
Massimiliano,Anselmi [1]
;
Silvia,Delle Vigne [1]
;
Giovanni,Sorge [8]
;
Kadri,Karaer [4]
;
Goran,Cuturilo [2]
;
Alessandro,Sartorio [9]
;
Sigrid,Tinschert [10]
;
Maria,Accadia [11]
;
Maria C,Digilio [12]
;
Giuseppe,Zampino [13]
;
Alessandro,De Luca [14]
;
Hélène,Cavé [15]
;
Martin,Zenker [8]
;
Bruce D,Gelb [1]
;
Bruno,Dallapiccola [16]
;
Lorenzo,Stella [8]
;
Giovanni B,Ferrero [17]
;
Simone,Martinelli [18]
;
Marco,Tartaglia [7]
作者单位：
Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
[1]
Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.
[2]
Dipartimento di Medicina Sperimentale, Sapienza Università di Roma, Rome, Italy.
[3]
Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma Tor Vergata, Rome, Italy.
[4]
Genetica Medica, Policlinico S. Orsola-Malpighi, Bologna, Italy.
[5]
Department of Pediatric and Public Health Sciences, University of Torino, Torino, Italy.
[6]
Institute of Human Genetics, University Hospital of Magdeburg, Otto-von-Guericke-University, Magdeburg, Germany.
[7]
Ospedale Casa Sollievo della Sofferenza, IRCCS, San Giovanni Rotondo, Italy.
[8]
Unità Operativa Complessa di Clinica Pediatrica, Dipartimento di Medicina Clinica e Sperimentale, Università di Catania, Catania, Italy.
[9]
Dr. Ersin Arslan Research and Training Hospital, Department of Medical Genetics, Gaziantep, Turkey.
[10]
Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
[11]
University Children's Hospital, Belgrade, Serbia.
[12]
Istituto Auxologico Italiano, Experimental Laboratory for Auxo-Endocrinological Research, Milan and Verbania, Italy.
[13]
Istituto Auxologico Italiano, Division of Auxology, Verbania, Italy.
[14]
Institute of Clinical Genetics, Technical University of Dresden, Dresden, Germany.
[15]
Istituto di Clinica Pediatrica, Università Cattolica del Sacro Cuore, Rome, Italy.
[16]
Département de Génétique, Hôpital Robert Debré, Paris, France.
[17]
INSERM UMR_S1131, Institut Universitaire d'Hématologie, Université Paris Diderot, Paris-Sorbonne-Cité, Paris, France.
[18]
Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York.
[19]
DOI
10.1002/humu.23175
PMID
28074573
发布时间
2018-06-28
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