换一批
换一批Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
作者：
Burrage, Lindsay C. [1]
;
Reynolds, John J. [2]
;
Baratang, Nissan Vida [3]
;
Phillips, Jennifer B. [4]
;
Wegner, Jeremy [5]
;
McFarquhar, Ashley [6]
;
Higgs, Martin R. [7]
;
Christiansen, Audrey E. [8]
;
Lanza, Denise G. [9]
;
Seavitt, John R. [10]
;
Jain, Mahim [11]
;
Li, Xiaohui [12]
;
Parry, David A. [13]
;
Raman, Vandana [14]
;
Chitayat, David [15]
;
Chinn, Ivan K. [16]
;
Bertuch, Alison A. [17]
;
Karaviti, Lefkothea [18]
;
Schlesinger, Alan E. [19]
;
Earl, Dawn [20]
;
Bamshad, Michael [21]
;
Savarirayan, Ravi [22]
;
Doddapaneni, Harsha [23]
;
Muzny, Donna [24]
;
Jhangiani, Shalini N. [25]
;
Eng, Christine M. [26]
;
Gibbs, Richard A. [27]
;
Bi, Weimin [28]
;
Emrick, Lisa [29]
;
Rosenfeld, Jill A. ;
Postlethwait, John ;
Westerfield, Monte ;
Dickinson, Mary E. ;
Beaudet, Arthur L. ;
Ranza, Emmanuelle ;
Huber, Celine ;
Cormier-Daire, Valerie ;
Shen, Wei ;
Mao, Rong ;
Heaney, Jason D. ;
Orange, I. Jordan S. ;
Bertola, Debora ;
Yamamoto, Guilherme L. ;
Baratela, Wagner Ar ;
Butler, Merlin G. ;
Ali, Asim ;
Adeli, Mehdi ;
Cohn, Daniel H. ;
Krakow, Deborah ;
Jackson, Andrew P. ;
Lees, Melissa ;
Offiah, Amaka C. ;
Carlston, Colleen M. ;
Carey, John C. ;
Stewart, Grant S. ;
Bacino, Carlos A. ;
Campeau, Philippe M. ;
Lee, Brendan
作者单位：
Seattle Childrens Hosp, Seattle, WA 98195 USA
[1]
Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA
[2]
Univ Sao Paulo, Inst Crianca, Clin Genet Unit, Hosp Clin,Fac Med, BR-05403000 Sao Paulo, SP, Brazil
[3]
Univ Utah, Div Pediat Endocrinol & Diabet, Salt Lake City, UT 84112 USA
[4]
Univ Toronto, Mt Sinai Hosp, Dept Obstet & Gynecol, Prenatal Diag & Med Genet Program, Toronto, ON
[5]
Univ Calif Los Angeles, David Geffen Sch Med, Dept Orthopaed Surg, Dept Human Genet, Los Angeles
[6]
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[7]
Texas Childrens Hosp, Dept Pediat Radiol, Houston, TX 77030 USA
[8]
Hamad Med Corp, Weill Cornell Med, Dept Allergy & Immunol Sidra Med, Doha, Qatar
[9]
Great Ormond St Hosp Sick Children, North East Thames Reg Genet Serv, London WC1N 3JH, England
[10]
Univ Oregon, Inst Neurosci, Eugene, OR 97403 USA
[11]
Univ Melbourne, Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Parkville, Vic 3052
[12]
Univ Toronto, Hosp Sick Children, Dept Ophthalmol & Vis Sci, Toronto, ON M5G 1X8, Canada
[13]
Texas Childrens Hosp, Div Pediat Immunol Allergy & Rheumatol, Houston, TX 77030 USA
[14]
Univ Sheffield, Acad Unit Child Hlth, Dept Oncol & Metab, Sheffield S10 2TH, S Yorkshire, England
[15]
Univ Utah, Dept Pediat, Div Med Genet, Salt Lake City, UT 84112 USA
[16]
Univ Edinburgh, Western Gen Hosp, Med Res Council Inst Genet & Mol Med, Crewe Rd, Edinburgh EH4 2XU
[17]
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA
[18]
Univ Paris 05, Hop Necker Enfants Malades, AP HP, Dept Genet,INSEAM UMR1163,Sorbonne Paris Cite,Ins
[19]
Texas Childrens Hosp, Div Diabet & Endocrinol, Houston, TX 77030 USA
[20]
Univ Edinburgh, Inst Genet & Mol Med, Med Res Council Human Genet Unit, Edinburgh EH4 2XU
[21]
Univ Geneva, Geneva Univ Hosp, Serv Genet Med, Med Sch, CH-1205 Geneva, Switzerland
[22]
Univ Montreal, Ctr Hosp Univ St Justine Res Ctr, Montreal, PQ H3T 1J4, Canada
[23]
Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA
[24]
Univ Birmingham, Inst Canc & Genom Sci, Birmingham B15 2TT, W Midlands, England
[25]
Kansas Univ, Med Ctr, Dept Psychiat, Kansas City, KS 66160 USA
[26]
Univ Calif Los Angeles, Dept Mol Cell & Dev Biol, Los Angeles, CA 90095 USA
[27]
Kennedy Krieger Inst, Dept Bone & Osteogenesis Imperfecta, Baltimore, MD 21205 USA
[28]
Associated Reg & Univ Pathologists Labs, Salt Lake City, UT 84108 USA
[29]
发布时间
2020-03-10
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The American Journal of Human Genetics
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