Phenotypic and genotypic description of 44 patients with variants in DLG4 encoding the post-synaptic density protein PSD-95
Por:
Seuma, ARP, Boerrigter, M, Mandrile, G, Pelle, A, Giorgio, E, Lindstrand, A, Johansson, M, Kvarnung, M, Everman, D, Bahrambeigi, V, MacKenzie, A, Morton, J, Ruivenkamp, C, Challman, T, Hurst, A, Hoyer, J, Elmslie, F, Dye, T, Isidor, B, Haldeman-Englert, C, Gomez-Andres, D, Schluter, A, de Man, S, Shieh, J, Prada, C, Moutton, S, Denomme-Pichon, A, Motti, S, Bruel, A, Mau-Them, FT, Reiter, S, van Ravenswaaij-Arts, C, Shaw-Smith, C, Parikh, S, Aldinger, K, Lovgren, A, Rauch, A, Ross, M, Gomez-Puertas, P, de Vries, B, Pujol, A and Tumer, Z
Publicada:
1 dic 2020
Resumen:
Filiaciones:
:
Bellvitge Biomed Res Inst IDIBELL, Neurometabol Dis Lab, Lhospitalet De Llobregat, Spain
Hosp Badalona Germans Trias & Pujol, Paediat Neurol Unit, Badalona, Spain
Boerrigter, M:
Copenhagen Univ Hosp, Dept Clin Genet, Kennedy Ctr, Rigshosp, Copenhagen, Denmark
Radboud Univ Nijmegen, Dept Gastroenterol & Hepatol, Med Ctr, Nijmegen, Netherlands
Mandrile, G:
San Luigi Univ Hosp, Thalassemia Ctr & Genet Unit, Orbassano, Italy
Pelle, A:
Univ Turin, Dept Clin & Biol Sci, Turin, Italy
Giorgio, E:
Univ Turin, Dept Med Sci, Turin, Italy
Lindstrand, A:
Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden
Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden
Johansson, M:
Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden
Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden
Kvarnung, M:
Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden
Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden
Everman, D:
Greenwood Genet Ctr, Greenville, SC USA
Bahrambeigi, V:
Greenwood Genet Ctr, Greenville, SC USA
MacKenzie, A:
Childrens Hosp Eastern Ontario, Res Inst, Dept Paediat, Rare Neurol Dis Therapeut, Ottawa, ON, Canada
Univ Ottawa, Dept Pediat, Fac Med, Ottawa, ON, Canada
Morton, J:
Birmingham Womens Hosp, Clin Genet Unit, Birmingham, W Midlands, England
Ruivenkamp, C:
Leiden Univ, Dept Clin Genet, Med Ctr, Leiden, Netherlands
Challman, T:
Geisinger Autism & Dev Med Inst, Lewisburg, PA USA
Hurst, A:
Univ Alabama Birmingham, Dept Genet, Birmingham, AL USA
Hoyer, J:
Friedrich Alexander Univ Erlangen Nurnber, Inst Human Genet, Erlangen, Germany
Elmslie, F:
South West Thames Reg Genet Serv, London, England
Dye, T:
Univ Cincinnati, Sch Med, Dept Pediat, Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH USA
Isidor, B:
CHU Nantes, Dept Med Genet, Nantes, France
Haldeman-Englert, C:
Mission Hosp, Fullerton Genet Ctr, Asheville, NC USA
Gomez-Andres, D:
Hosp Univ Vall dHebron, Vall dHebron Res Inst VHIR, Child Neurol Unit, Barcelona, Spain
Schluter, A:
Bellvitge Biomed Res Inst IDIBELL, Neurometabol Dis Lab, Lhospitalet De Llobregat, Spain
Ctr Biomed Res Rare Dis CIBERER, Madrid, Spain
de Man, S:
Amphia Hosp, Dept Pediat, Breda, Netherlands
Shieh, J:
Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA
Prada, C:
Univ Cincinnati, Sch Med, Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH USA
Moutton, S:
Univ Burgundy, FHU TRANS LAD, CHU Dijon Bourgogne, INSERM,UMR1231,GAD, Dijon, France
Denomme-Pichon, A:
Univ Burgundy, FHU TRANS LAD, CHU Dijon Bourgogne, INSERM,UMR1231,GAD, Dijon, France
Motti, S:
Tel Aviv Univ, Sheba Med Ctr, Canc Res Ctr, Bioinformat Unit, Tel Aviv, Israel
Tel Aviv Univ, Sackler Med Ctr, Tel Aviv, Israel
Maccabi HMO, Tel Aviv, Israel
Bruel, A:
Univ Burgundy, FHU TRANS LAD, CHU Dijon Bourgogne, INSERM,UMR1231,GAD, Dijon, France
Mau-Them, FT:
Univ Burgundy, FHU TRANS LAD, CHU Dijon Bourgogne, INSERM,UMR1231,GAD, Dijon, France
Reiter, S:
Haukeland Hosp, Dept Med Genet, Bergen, Norway
van Ravenswaaij-Arts, C:
Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands
Shaw-Smith, C:
Royal Devon & Exeter Natl Hlth Serv Fdn Trust, Dept Clin Genet, Exeter, Devon, England
Parikh, S:
Cleveland Clin, Mitochondrial Med & Neurogenet, Cleveland, OH 44106 USA
Aldinger, K:
Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA USA
Lovgren, A:
Broad Inst MIT & Harvard, Ctr Mendelian Genom, Cambridge, MA 02142 USA
Rauch, A:
Univ Zurich, Inst Med Genet, Schlieren, Switzerland
Ross, M:
New York Presbyterian Hosp, Dept Pediat, New York, NY USA
Gomez-Puertas, P:
Severo Ochoa Mol Biol Ctr, Mol Modelling Grp, Madrid, Spain
de Vries, B:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands
Pujol, A:
Bellvitge Biomed Res Inst IDIBELL, Neurometabol Dis Lab, Lhospitalet De Llobregat, Spain
Ctr Biomed Res Rare Dis CIBERER, Madrid, Spain
Catalan Inst Res & Adv Studies ICREA, Barcelona, Spain
Tumer, Z:
Copenhagen Univ Hosp, Dept Clin Genet, Kennedy Ctr, Rigshosp, Copenhagen, Denmark
Univ Copenhagen, Fac Hlth & Med Sci, Dept Clin Med, Copenhagen, Denmark
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