Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

被引：0
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作者：
Andrea Ciolfi
Aidin Foroutan
Alessandro Capuano
Lucia Pedace
Lorena Travaglini
Simone Pizzi
Marco Andreani
Evelina Miele
Federica Invernizzi
Chiara Reale
Celeste Panteghini
Maria Iascone
Marcello Niceta
Ralitza H. Gavrilova
Laura Schultz-Rogers
Emanuele Agolini
Maria Francesca Bedeschi
Paolo Prontera
Matteo Garibaldi
Serena Galosi
Vincenzo Leuzzi
Paola Soliveri
Rory J. Olson
Giovanna S. Zorzi
Barbara M. Garavaglia
Marco Tartaglia
Bekim Sadikovic
机构：
[1] IRCCS,Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù
[2] Western University,Department of Pathology and Laboratory Medicine
[3] London Health Sciences Centre,Verspeeten Clinical Genome Centre
[4] IRCCS,Department of Neuroscience, Ospedale Pediatrico Bambino Gesù
[5] IRCCS,Department of Pediatric Onco
[6] Fondazione IRCCS Istituto Neurologico C. Besta,Hematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù
[7] ASST Papa Giovanni XXIII,Medical Genetics and Neurogenetics Unit
[8] Mayo Clinic,Medical Genetics Laboratory
[9] IRCCS,Center for Individualized Medicine
[10] Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico,Translational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital
[11] University Hospital of Perugia,Medical Genetic Unit
[12] Sapienza University,Maternal
[13] Sant’Andrea Hospital,Infantile Department
[14] Sapienza University,Department of Neuroscience, NESMOS
[15] Fondazione IRCCS Istituto Neurologico C. Besta,Department of Human Neuroscience, Child Neurology and Psychiatry
[16] Fondazione IRCCS Istituto Neurologico C. Besta,Department of Neurology
[17] London Health Sciences Centre,Department of Child Neurology
来源：
Clinical Epigenetics | 2021年 / 13卷
关键词：
DNA methylation; Episignature; KMT2B; Dystonia 28;
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  • [1] Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile
    Ciolfi, Andrea
    Foroutan, Aidin
    Capuano, Alessandro
    Pedace, Lucia
    Travaglini, Lorena
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    Miele, Evelina
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    Agolini, Emanuele
    Bedeschi, Maria Francesca
    Prontera, Paolo
    Garibaldi, Matteo
    Galosi, Serena
    Leuzzi, Vincenzo
    Soliveri, Paola
    Olson, Rory J.
    Zorzi, Giovanna S.
    Garavaglia, Barbara M.
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    Sadikovic, Bekim
    CLINICAL EPIGENETICS, 2021, 13 (01)
  • [2] Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia
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