作者：
Sofia,Douzgou [1]
;
Janet,Dell’Oro [2]
;
Cristina Rodriguez,Fonseca [3]
;
Alessandra,Rei [4]
;
Jo,Mullins [5]
;
Isabelle,Jusiewicz [6]
;
Sylvia,Huisman [7]
;
Brittany N.,Simpson [8]
;
Klea,Vyshka [9]
;
Donatella,Milani [10]
;
Oliver,Bartsch [11]
;
Didier,Lacombe [12]
;
Sixto,García-Mi?aúr ;
Raoul C. M.,Hennekam
作者单位：
Department of Medical Genetics,Haukeland University Hospital
[1]
Associazione Rubinstein-Taybi Syndrome—Una Vita Speciale, Organizzazione di Volontariato (ODV),
[2]
Asociacion Espa?ola del Sindrome Rubinstein-Taybi (AESRT)
[3]
Rubinstein-Taybi Syndrome Support Group, Registered Charity
[4]
Association Fran?aise du Syndrome de Rubinstein-Taybi (AFSRT L’Olivier)
[5]
Department of Paediatrics,Amsterdam UMC—Location AMC
[6]
Division of Human Genetics, Cincinnati Children’s Hospital Medical Center
[7]
European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN
[8]
Fondazione IRCCS Ca’ Granda, Ospedale Maggiore Policlinico
[9]
Institute of Human Genetics, University Medical Centre of the Johannes Gutenberg University Mainz
[10]
Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU Bordeaux, et INSERM
[11]
Sección de Genética Clínica, Instituto de Genética Médica y Molecular (INGEMM), Hospital
[12]
发布时间
2022-11-01
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