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Biallelic MED27 Variants Lead to Variable Ponto-Cerebello-lental Degeneration with Movement Disorders.

Reza Maroofian,Rauan Kaiyrzhanov,Elisa Cali,Mina Zamani,Maha S. Zaki,Matteo Ferla,Domenico Tortora,Saeid Sadeghian,Saadia Maryam Saadi,Uzma Abdullah,Ehsan Ghayoor Karimiani,Stephanie Efthymiou,Goezde Yesil,Shahryar Alavi,Aisha M. Al Shamsi,Homa Tajsharghi,Mohamed S. Abdel-Hamid,Nebal Waill Saadi,Fuad Al Mutairi,Lama Alabdi,Christian Beetz,Zafar Ali,Mehran Beiraghi Toosi,Sabine Rudnik-Schoeneborn,Meisam Babaei,Pirjo Isohanni,Jameel Muhammad,Sheraz Khan,Maha Al Shalan,Scott E. Hickey,Daphna Marom,Emil Elhanan,Manju A. Kurian,Dana Marafi,Alihossein Saberi,Mohammad Hamid,Robert Spaull,Linyan Meng,Seema Lalani,Shazia Maqbool,Fatima Rahman,Juergen Seeger,Timothy Blake Palculict,Tracy Lau,David Murphy,Niccolo Emanuele Mencacci,Katharina Steindl,Anais Begemann,Anita Rauch,Sinan Akbas,Ayca Dilruba Aslanger,Vincenzo Salpietro,Hammad Yousaf,Shay Ben-Shachar,Katarina Ejeskaer, Aida Al Aqeel,Frances A. High, Amy E. Armstrong-Javors,Seyed Mohammadsaleh Zahraei,Tahereh Seifi,Jawaher Zeighami,Gholamreza Shariati,Alireza Sedaghat,Samaneh Noroozi Asl,Mohmmad Shahrooei,Giovanni Zifarelli,Lydie Burglen,Claudia Ravelli,Johannes Zschocke,Ulrich A. Schatz,Maryam Ghavideldarestani,Walaa A. Kamel,Hilde Van Esch,Annette Hackenberg,Jenny C. Taylor,Lihadh Al-Gazali,Peter Bauer,Joseph J. Gleeson,Fowzan Sami Alkuraya,James R. Lupski,Hamid Galehdari,Reza Azizimalamiri,Wendy K. Chung,Shahid Mahmood Baig,Henry Houlden,Mariasavina Severino

BRAIN（2023）

引用 1|浏览97
关键词
mediator complex,gene transcription,neurodevelopmental disorders,dystonia,cerebello-lental degeneration,cerebellar atrophy
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