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Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

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第一作者: Cousin, Margot A.
作者: Cousin, Margot A. [1] ; Creighton, Blake A. [2] ; Breau, Keith A. [3] ; Spillmann, Rebecca C. [4] ; Torti, Erin [5] ; Dontu, Sruthi [6] ; Tripathi, Swarnendu [7] ; Ajit, Deepa [8] ; Edwards, Reginald J. [9] ; Afriyie, Simone [10] ; Bay, Julia C. [11] ; Harper, Kathryn M. [12] ; Beltran, Alvaro A. [13] ; Munoz, Lorena J. [14] ; Falcon Rodriguez, Liset [15] ; Stankewich, Michael C. [16] ; Person, Richard E. [17] ; Si, Yue [18] ; Normand, Elizabeth A. [19] ; Blevins, Amy [20] ; May, Alison S. [21] ; Bier, Louise [22] ; Aggarwal, Vimla [23] ; Mancini, Grazia M. S. [24] ; van Slegtenhorst, Marjon A. [25] ; Cremer, Kirsten [26] ; Becker, Jessica [27] ; Engels, Hartmut [28] ; Aretz, Stefan [29] ; MacKenzie, Jennifer J. [30] ; Brilstra, Eva [31] ; van Gassen, Koen L. I. [32] ; van Jaarsveld, Richard H. [33] ; Oegema, Renske ; Parsons, Gretchen M. ; Mark, Paul ; Helbig, Ingo ; McKeown, Sarah E. ; Stratton, Robert ; Cogne, Benjamin ; Isidor, Bertrand ; Cacheiro, Pilar ; Smedley, Damian ; Firth, Helen V. ; Bierhals, Tatjana ; Kloth, Katja ; Weiss, Deike ; Fairley, Cecilia ; Shieh, Joseph T. ; Kritzer, Amy ; Jayakar, Parul ; Kurtz-Nelson, Evangeline ; Bernier, Raphael A. ; Wang, Tianyun ; Eichler, Evan E. ; van de Laar, Ingrid M. B. H. ; McConkie-Rosell, Allyn ; McDonald, Marie T. ; Kemppainen, Jennifer ; Lanpher, Brendan C. ; Schultz-Rogers, Laura E. ; Gunderson, Lauren B. ; Pichurin, Pavel N. ; Yoon, Grace ; Zech, Michael ; Jech, Robert ; Winkelmann, Juliane ; Beltran, Adriana S. ; Zimmermann, Michael T. ; Temple, Brenda ; Moy, Sheryl S. ; Klee, Eric W. ; Tan, Queenie K. -G. ; Lorenzo, Damaris N.
作者单位: Univ Calif San Francisco, Dept Pediat, Div Med Genet, San Francisco, CA USA [1] Univ N Carolina, Ctr Neurosci, Chapel Hill, NC 27515 USA [2] Univ Toronto, Hosp Sick Children, Div Clin Metab Genet, Toronto, ON, Canada [3] Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany [4] Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA [5] Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA [6] Spectrum Hlth Med Genet, Grand Rapids, MI USA [7] Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USA [8] Columbia Univ, Dept Neurol, New York, NY USA [9] Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands [10] Cambridge Univ Hosp, Dept Clin Genet, Cambridge, England [11] Columbia Univ, Inst Genom Med, New York, NY USA [12] Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Neuropediat, Hamburg, Germany [13] Childrens Hosp Philadelphia, Dept Neurol, Div Neurol, Philadelphia, PA 19104 USA [14] Erasmus MC Univ Med Ctr, Dept Clin Genet, Rotterdam, Netherlands [15] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA USA [16] Helmholtz Zentrum Munchen, Inst Neurogen, Munich, Germany [17] GeneDx, Gaithersburg, MD USA [18] Driscoll Childrens Hosp, Genet, Corpus Christi, TX USA [19] Univ N Carolina, Dept Biochem & Biophys, Chapel Hill, NC 27515 USA [20] McMaster Univ, Hamilton, ON, Canada [21] CHU Nantes, Serv Genet Med, Nantes, France [22] Univ Bonn, Sch Med, Inst Human Genet, Bonn, Germany [23] Charles Univ Prague, Fac Med 1, Dept Neurol, Prague, Czech Republic [24] Med Coll Wisconsin, Genom Sci & Precis Med Ctr, Bioinformat Res & Dev Lab, Milwaukee, WI 53226 USA [25] Univ N Carolina, Human Pluripotent Stem Cell Core, Chapel Hill, NC 27515 USA [26] Univ Washington, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA [27] Queen Mary Univ London, William Harvey Res Inst, Sch Med & Dent, London, England [28] Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA [29] Yale Univ, Dept Pathol, New Haven, CT USA [30] Nicklaus Childrens Hosp, Miami, FL USA [31] Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27515 USA [32] Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USA [33]
发布时间 2021-09-04
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