换一批Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
第一作者：
El Chehadeh, S.
作者：
El Chehadeh, S. [1]
;
Touraine, R. [2]
;
Prieur, F. [3]
;
Reardon, W. [4]
;
Bienvenu, T. [5]
;
Chantot-Bastaraud, S. [6]
;
Doco-Fenzy, M. [7]
;
Landais, E. [8]
;
Philippe, C. [9]
;
Marle, N. [10]
;
Callier, P. [11]
;
Mosca-Boidron, A. -L. [12]
;
Mugneret, F. [13]
;
Le Meur, N. [14]
;
Goldenberg, A. [15]
;
Guerrot, A. -M. [16]
;
Chambon, P. [17]
;
Satre, V. [18]
;
Coutton, C. [19]
;
Jouk, P. -S. [20]
;
Devillard, F. [21]
;
Dieterich, K. [22]
;
Afenjar, A. [23]
;
Burglen, L. [24]
;
Moutard, M. -L. [25]
;
Addor, M. -C. [26]
;
Lebon, S. [27]
;
Martinet, D. [28]
;
Alessandri, J. -L. [29]
;
Doray, B. [30]
;
Miguet, M. ;
Devys, D. ;
Saugier-Veber, P. ;
Drunat, S. ;
Aral, B. ;
Kremer, V. ;
Rondeau, S. ;
Tabet, A. -C. ;
Thevenon, J. ;
Thauvin-Robinet, C. ;
Perreton, N. ;
Des Portes, V. ;
Faivre, L.
作者单位：
Univ Grenoble Alpes, CHU Grenoble Alpes, Dept Genet & Procreat, Grenoble, France
[1]
Hop Enfants Armand Trousseau, CHU Paris Est, Unite Neuropediat & Pathol Dev, Paris, France
[2]
Hop Felix Guyon, CHU Reunion, Serv Genet, St Denis, Reunion, France
[3]
HU Paris Ctr, AP HP, Lab Genet & Biol Mol, Site Cochin, Paris, France
[4]
Hop Robert Debre, Lab Cytogenet, Paris, France
[5]
Hop Felix Guyon, CHU Reunion, Pole Enfants, St Denis, Reunion, France
[6]
CHU Rouen, Etab Francais Sang, Rouen, France
[7]
CHU Dijon, Ctr Reference Malad Rares Anomalies Dev & Syndrom, Ctr Genet, FHU TRANSLAD, Dijon, France
[8]
CHU Rouen, Serv Genet, INSERM, Rouen, France
[9]
Ctr Hosp Univ Vaudois CHUV, Lab Cytogenet Constitut & Prenatale, Lausanne, Switzerland
[10]
Our Ladys Childrens Hosp, Natl Ctr Med Genet, Clin Genet Div, Dublin, Ireland
[11]
CHU Rouen, Lab Histol Cytogenet & Biol Reprod, Rouen, France
[12]
Fac Med & Pharm, Lab Genet Mol, Rouen, France
[13]
Hop Enfants Armand Trousseau, CHU Paris Est, Serv Genet, Paris, France
[14]
CHU St Etienne, Serv Genet Clin Chromosom & Mol, St Etienne, France
[15]
CHU Dijon, Serv Biol Mol, Dijon, France
[16]
Hop Hautepierre, Hop Univ Strasbourg, Lab Cytogenet, Strasbourg, France
[17]
CHU Rouen, Serv Pediat Neonatale & Reanimat, Rouen, France
[18]
CHU Lyon, Serv Pharmacol Clin, INSERM, EPICIME,CIC Lyon 1407, Bron, France
[19]
Hop Brabois CHRU, Lab Genet Med, Vandoeuvre Les Nancy, France
[20]
Hop Enfants Armand Trousseau, CHU Paris Est, Serv Genet & Embryol Med, Paris, France
[21]
CHU Reims, SFR CAP Sante, Serv Genet, EA3801, Reims, France
[22]
Hop Robert Debre, Lab Biol Mol, Paris, France
[23]
Hop Hautepierre, Ctr Reference Malad Rares Anomalies Dev & Syndrom, Hop Univ Strasbourg, Serv Genet
[24]
CHU Reims, Pole Biol Med, PRBI, Reims, France
[25]
Ctr Hosp Univ Vaudois CHUV, Serv Genet Med, Lausanne, Switzerland
[26]
Hop Civil, CHU Strasbourg, Lab Diagnost Genet, Strasbourg, France
[27]
CHU Dijon, Serv Cytogenet, Dijon, France
[28]
Ctr Hosp Univ Vaudois CHUV, Unite Neuropediat, Lausanne, Switzerland
[29]
CHU Lyon, GH Est, Serv Neurol Pediat, Bron, France
[30]
发布时间
2017-12-01
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Clinical Genetics
Clinical Genetics
576-588页
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