换一批Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
第一作者：
Torti, Erin
作者：
Torti, Erin [1]
;
Keren, Boris [2]
;
Palmer, Elizabeth E. [3]
;
Zhu, Zehua [4]
;
Afenjar, Alexandra [5]
;
Anderson, Ilse J. [6]
;
Andrews, Marisa, V [7]
;
Atkinson, Celia [8]
;
Au, Margaret [9]
;
Berry, Susan A. [10]
;
Bowling, Kevin M. [11]
;
Boyle, Jackie [12]
;
Buratti, Julien [13]
;
Cathey, Sara S. [14]
;
Charles, Perrine [15]
;
Cogne, Benjamin [16]
;
Courtin, Thomas [17]
;
Escobar, Luis F. [18]
;
Finley, Sabra Ledare [19]
;
Graham, John M., Jr. [20]
;
Grange, Dorothy K. [21]
;
Heron, Delphine [22]
;
Hewson, Stacy [23]
;
Hiatt, Susan M. [24]
;
Hibbs, Kathleen A. [25]
;
Jayakar, Parul [26]
;
Kalsner, Louisa ;
Larcher, Lise ;
Lesca, Gaetan ;
Mark, Paul R. ;
Miller, Kathryn ;
Nava, Caroline ;
Nizon, Mathilde ;
Pai, G. Shashidhar ;
Pappas, John ;
Parsons, Gretchen ;
Payne, Katelyn ;
Putoux, Audrey ;
Rabin, Rachel ;
Sabatier, Isabelle ;
Shinawi, Marwan ;
Shur, Natasha ;
Skinner, Steven A. ;
Valence, Stephanie ;
Warren, Hannah ;
Whalen, Sandra ;
Crunk, Amy ;
Douglas, Ganka ;
Monaghan, Kristin G. ;
Person, Richard E. ;
Willaert, Rebecca ;
Solomon, Benjamin D. ;
Juusola, Jane
作者单位：
HudsonAlpha Inst Biotechnol, Huntsville, AL USA
[1]
St Vincent Hosp & Hlth Serv, Indianapolis, IN USA
[2]
Univ Minnesota, Dept Pediat, Minneapolis, MN 55455 USA
[3]
Riley Hosp Children, Indianapolis, IN USA
[4]
Hop Trousseau, AP HP, Dept Genet & Embryol Med, Paris, France
[5]
Hop Armand Trousseau, AP HP, Unite Fonct Genet Clin, Ctr Reference Anomalies Dev & Syndromes
[6]
Univ Tennessee, Med Ctr, Univ Genet, Knoxville, TN USA
[7]
Lyon Univ Hosp, Dept Med Genet, Lyon, France
[8]
NYU, Sch Med, Dept Pediat, New York, NY USA
[9]
Univ Tennessee, Dept Med, Div Genet, Grad Sch Med,Univ Genet, Knoxville, TN USA
[10]
Nicklaus Childrens Hosp, Div Genet & Metab, Miami, FL USA
[11]
Greenwood Genet Ctr, Greenwood, SC 29646 USA
[12]
Washington Univ, Sch Med, Dept Pediat, Div Genet & Genom Med, St Louis, MO 63110 USA
[13]
Med Univ South Carolina, Dept Pediat, Charleston, SC 29425 USA
[14]
Univ Toronto, Hosp Sick Children, Toronto, ON, Canada
[15]
CHU Nantes, Serv Genet Med, Nantes, France
[16]
Lyon Univ Hosp, Women Mother & Children Hosp, Dept Pediat Neurol, Lyon, France
[17]
Hop La Pitie Salpetriere, AP HP, Dept Genet, Paris, France
[18]
Univ Minnesota, Mason Childrens Hosp, Minneapolis, MN USA
[19]
Hunter New England Hlth, Genet Learning Disabil Serv, Waratah, NSW, Australia
[20]
Spectrum Hlth Med Genet, Grand Rapids, MI USA
[21]
Albany Med Ctr, Albany, NY USA
[22]
GeneDx, Gaithersburg, MD 20877 USA
[23]
Cedars Sinai Med Ctr, Los Angeles, CA 90048 USA
[24]
Hop Trousseau, AP HP, Serv Neuropediat, Paris, France
[25]
Connecticut Childrens Med Ctr, Farmington, CT USA
[26]
发布时间
2020-11-17
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Genetics in medicine
Genetics in medicine
2036-2042页
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