换一批Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
第一作者：
Verheije, Rosalind
作者：
Verheije, Rosalind [1]
;
Kupchik, Gabriel S. [2]
;
Isidor, Bertrand [3]
;
Kroes, Hester Y. [4]
;
Lynch, Sally Ann [5]
;
Hawkes, Lara [6]
;
Hempel, Maja [7]
;
Gelb, Bruce D. [8]
;
Ghoumid, Jamal [9]
;
D'Amours, Guylaine [10]
;
Chandler, Kate [11]
;
Dubourg, Christele [12]
;
Loddo, Sara [13]
;
Tumer, Zeynep [14]
;
Shaw-Smith, Charles [15]
;
Nizon, Mathilde [16]
;
Shevell, Michael [17]
;
Van Hoof, Evelien [18]
;
Anyane-Yeboa, Kwame [19]
;
Cerbone, Gaetana [20]
;
Clayton-Smith, Jill [21]
;
Cogne, Benjamin [22]
;
Corre, Pierre [23]
;
Corveleyn, Anniek [24]
;
De Borre, Marie [25]
;
Hjortshoj, Tina Duelund ;
Fradin, Melanie ;
Gewillig, Marc ;
Goldmuntz, Elizabeth ;
Hens, Greet ;
Lemyre, Emmanuelle ;
Journel, Hubert ;
Kini, Usha ;
Kortuem, Fanny ;
Le Caignec, Cedric ;
Novelli, Antonio ;
Odent, Sylvie ;
Petit, Florence ;
Revah-Politi, Anya ;
Stong, Nicholas ;
Strom, Tim M. ;
van Binsbergen, Ellen ;
Devriendt, Koenraad ;
Breckpot, Jeroen
作者单位：
CHU Pontchaillou, Genet Mol Lab, Rennes, France
[1]
Univ Exeter, Sch Med, Inst Biomed & Clin Sci, Exeter, Devon, England
[2]
SG Moscati Hosp, Div Med Genet, Avellino, Italy
[3]
Childrens Hosp Philadelphia, Div Cardiol, 34th St & Civic Ctr Blvd, Philadelphia, PA 19104 USA
[4]
Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany
[5]
Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany
[6]
Childrens Univ Hosp, Dept Clin Genet, Temple St, Dublin, Ireland
[7]
Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands
[8]
Katholieke Univ Leuven, Ctr Human Genet, Leuven, Belgium
[9]
McGill Univ, Dept Pediat, Fac Med, Montreal, PQ, Canada
[10]
CHU Lille, Hop Jeanne Flandre, Serv Genet Clin, Lille, France
[11]
CHU Nantes, Serv Genet Med, Nantes, France
[12]
Univ Hosp Leuven, Dept Otorhinolaryngol Head & Neck Surg, Leuven, Belgium
[13]
Oxford Univ Hosp NHS Fdn Trust, Oxford Ctr Genom Med, Oxford, England
[14]
CHU Rennes, Serv Genet Med, Ctr Reference Anomalies Dev, Rennes, France
[15]
Columbia Univ, Med Ctr, Inst Genom Med, New York, NY USA
[16]
Bambino Gesu Pediat Hosp, IRCCS, Med Genet Lab, Rome, Italy
[17]
Univ Montreal, CHU St Justine, Dept Pediat, Serv Genet Med, Montreal, PQ, Canada
[18]
CHU Nantes, Serv Stomatol, Nantes, France
[19]
Rigshosp, Appl Human Mol Genet, Kennedy Ctr, Dept Clin Genet,Copenhagen Univ Hosp, Glostrup, Denmark
[20]
Maimonides Hosp, Infants & Childrens Hosp Brooklyn, Div Med Genet, Brooklyn, NY USA
[21]
Manchester Univ Hosp NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Manchester Ctr Genom Med
[22]
UZ Leuven, Pediat & Congenital Cardiol, Leuven, Belgium
[23]
Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA
[24]
Columbia Univ, Dept Pediat, Med Ctr, Div Clin Genet, New York, NY 10027 USA
[25]
发布时间
2019-09-17
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European journal of human genetics
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