换一批A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features
第一作者：
Molin,A.-M.
作者：
Molin,A.-M. [1]
;
Andrieux,J. [2]
;
Koolen,D.A. [3]
;
Malan,V. [4]
;
Carella,M. [5]
;
Colleaux,L. [6]
;
Cormier-Daire,V. [7]
;
David,A. [8]
;
deLeeuw,N. [9]
;
Delobel,B. [10]
;
Duban-Bedu,B. [11]
;
Fischetto,R. [12]
;
Flinter,F. [13]
;
Kjaergaard,S. [14]
;
Kok,F. [15]
;
Krepischi,A.C. [16]
;
LeCaignec,C. [17]
;
MackieOgilvie,C. [18]
;
Maia,S. [19]
;
Mathieu-Dramard,M. [20]
;
Munnich,A. [21]
;
Palumbo,O. [22]
;
Papadia,F. ;
Pfundt,R. ;
Reardon,W. ;
Receveur,A. ;
Rio,M. ;
Darling,L.R. ;
Rosenberg,C. ;
Sá,J. ;
Vallee,L. ;
Vincent-Delorme,C. ;
Zelante,L. ;
Bondeson,M.-L. ;
Annerén,G.
作者单位：
Department of Evolutionary Biology, Institute of Biosciences, University of S?o Paulo, Brazil
[1]
Rigshospitalet and Roskilde, Departments of Paediatrics, Denmark
[2]
Centre de Génétique Chromosomique, GHICL, Lille, France
[3]
Service de Neuropédiatrie, CHRU de Lille, France
[4]
Service de Génétique Clinique, CHU d'Amiens, France
[5]
Department of Clinical Genetics, University Hospital, Rigshospitalet, Copenhagen, Denmark
[6]
Department of Neurology, Academic Hospital, University of S?o Paulo, Brazil
[7]
Department of Human Genetics, Institute for Genetic and Metabolic Disorders, Radboud University
[8]
Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom
[9]
Department of Evolutionary Biology, Institute of Biosciences, University of S?o Paulo, Brazil, A.C
[10]
Département de Génétique et INSERM U781, Université Paris Descartes, H?pital, Necker-Enfants
[11]
Medical Genetics Unit IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy
[12]
Unità Operativa Malattie Metaboliche Genetica Medica, P.O. Giovanni XXIII, A.O.U. Policlinico
[13]
Department of Cytogenetics, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom
[14]
Servi?o de Genética Médica, Centro Hospitalar de Coimbra, Coimbra, Portugal
[15]
Service de Génétique Médicale, H?pital Jeanne de Flandre, CHRU de Lille, France
[16]
Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
[17]
CHU Nantes, Service de genetique medicale, Nantes, France
[18]
Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland
[19]
Institut de Génétique Médicale, Hopital Jeanne de Flandre, CHRU de Lille, France
[20]
CHU Nantes, Service de genetique medicale, Nantes, France, Inserm, UMR-S915, L'Institut du thorax
[21]
Laboratoire de Cytogénétique, CHU d'Amiens, France
[22]
发布时间
2013-11-20
- 浏览2
Journal of Medical Genetics
Journal of Medical Genetics
104-109页
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