换一批MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
第一作者：
Smol, T.
作者：
Smol, T. [1]
;
Petit, F. [2]
;
Piton, A. [3]
;
Keren, B. [4]
;
Sanlaville, D. [5]
;
Afenjar, A. [6]
;
Baker, S. [7]
;
Bedoukian, E. C. [8]
;
Bhoj, E. J. [9]
;
Bonneau, D. [10]
;
Boudry-Labis, E. [11]
;
Bouquillon, S. [12]
;
Boute-Benejean, O. [13]
;
Caumes, R. [14]
;
Chatron, N. [15]
;
Colson, C. [16]
;
Coubes, C. [17]
;
Coutton, C. [18]
;
Devillard, F. [19]
;
Dieux-Coeslier, A. [20]
;
Doco-Fenzy, M. [21]
;
Ewans, L. J. [22]
;
Faivre, L. [23]
;
Fassi, E. [24]
;
Field, M. [25]
;
Fournier, C. [26]
;
Francannet, C. [27]
;
Genevieve, D. [28]
;
Giurgea, I. [29]
;
Goldenberg, A. ;
Green, A. K. ;
Guerrot, A. M. ;
Heron, D. ;
Isidor, B. ;
Keena, B. A. ;
Krock, B. L. ;
Kuentz, P. ;
Lapi, E. ;
Le Meur, N. ;
Lesca, G. ;
Li, D. ;
Marey, I. ;
Mignot, C. ;
Nava, C. ;
Nesbitt, A. ;
Nicolas, G. ;
Roche-Lestienne, C. ;
Roscioli, T. ;
Satre, V. ;
Santani, A. ;
Stefanova, M. ;
Larsen, S. Steinwall ;
Saugier-Veber, P. ;
Picker-Minh, S. ;
Thuillier, C. ;
Verloes, A. ;
Vieville, G. ;
Wenzel, M. ;
Willems, M. ;
Whalen, S. ;
Zarate, Y. A. ;
Ziegler, A. ;
Manouvrier-Hanu, S. ;
Kalscheuer, V. M. ;
Gerard, B. ;
Ghoumid, Jamal
作者单位：
CHU Montpellier, Dept Genet Med, Montpellier, France
[1]
Genet Learning Disabil Serv, Waratah, NSW, Australia
[2]
Hop Robert Debre, AP HP, Unite Fonct Genet Clin, Paris, France
[3]
CHU Rouen, INSERM, Ctr Normand Genom Med & Med Personnalisee, Serv Genet, Rouen, France
[4]
CHU Lille, Hop Jeanne Flandre, Serv Genet Clin, Ave Eugene Avinee, Lille, France
[5]
Childrens Hosp Philadelphia, Roberts Individualized Med Genet Ctr, Philadelphia, PA 19104 USA
[6]
CHU Nantes, Serv Genet Med, Unite Genet Clin, Nantes, France
[7]
Univ Hosp Linkoping, Dept Clin Genet, Linkoping, Sweden
[8]
Hop Univ Strasbourg, Inst Genet Med Alsace, Lab Diagnost Genet, Strasbourg, France
[9]
CHU Clermont Fernand, Serv Genet Med, Clermont Ferrand, France
[10]
Univ Lille, RADEME, EA 7364, Lille, France
[11]
Childrens Hosp Philadelphia, Dept Pathol Lab Med, Philadelphia, PA 19104 USA
[12]
Hosp Civils Lyon, Serv Genet, Lyon, France
[13]
CHU Dijon, Ctr Genet, Dijon, France
[14]
Univ New South Wales, St Vincents Clin Sch, Darlinghurst, NSW, Australia
[15]
Washington Univ, Sch Med, Dept Pediat, Div Genet & Genom Med, St Louis, MO 63110 USA
[16]
Anna Meyer Childrens Univ Hosp, Med Genet Unit, Florence, Italy
[17]
CHU Lille, Hop Jeanne Flandre, Inst Genet Med, Lille, France
[18]
Hop Enfants Armand Trousseau, AP HP, Serv Genet, Paris, France
[19]
CHU Reims, SFR CAP Sante, Serv Genet, EA3801, Reims, France
[20]
Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, Paris, France
[21]
CHU Angers, Serv Genet, Angers, France
[22]
Childrens Hosp Philadelphia, Clin Genet, Philadelphia, PA 19104 USA
[23]
Univ Arkansas Med Sci, Dept Pediat, Sect Genet & Metab, Little Rock, AR 72205 USA
[24]
Charite Univ Med Berlin, Dept Pediat Neurol, Berlin, Germany
[25]
Hop Trousseau, AP HP, Serv Genet, Paris, France
[26]
Univ Bourgogne, Equipe GAD, UMR INSERM 1231, Dijon, France
[27]
Max Planck Inst Mol Genet, Res Grp Dev & Dis, Berlin, Germany
[28]
CHU Grenoble Alpes, Lab Genet Chromosom, Grenoble, France
[29]
发布时间
2019-03-16
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Neurogenetics
Neurogenetics
93-103页
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