Article
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Brain : a journal of neurology - 1 Dec 2023
Maroofian Reza, Kaiyrzhanov Rauan, Cali Elisa, Zamani Mina, Zaki Maha S, Ferla Matteo, Tortora Domenico, Sadeghian Saeid, Saadi Saadia Maryam, Abdullah Uzma, Karimiani Ehsan Ghayoor, Efthymiou Stephanie, Yeşil Gözde, Alavi Shahryar, Al Shamsi Aisha M, Tajsharghi Homa, Abdel-Hamid Mohamed S, Saadi Nebal Waill, Al Mutairi Fuad, Alabdi Lama, Beetz Christian, Ali Zafar, Toosi Mehran Beiraghi, Rudnik-Schöneborn Sabine, Babaei Meisam, Isohanni Pirjo, Muhammad Jameel, Khan Sheraz, Al Shalan Maha, Hickey Scott E, Marom Daphna, Elhanan Emil, Kurian Manju A, Marafi Dana, Saberi Alihossein, Hamid Mohammad, Spaull Robert, Meng Linyan, Lalani Seema, Maqbool Shazia, Rahman Fatima, Seeger Jürgen, Palculict Timothy Blake, Lau Tracy, Murphy David, Mencacci Niccolo Emanuele, Steindl Katharina, Begemann Anais, Rauch Anita, Akbas Sinan, Aslanger Ayça Dilruba, Salpietro Vincenzo, Yousaf Hammad, Ben-Shachar Shay, Ejeskär Katarina, Al Aqeel Aida I, High Frances A, Armstrong-Javors Amy E, Zahraei Seyed Mohammadsaleh, Seifi Tahereh, Zeighami Jawaher, Shariati Gholamreza, Sedaghat Alireza, Asl Samaneh Noroozi, Shahrooei Mohmmad, Zifarelli Giovanni, Burglen Lydie, Ravelli Claudia, Zschocke Johannes, Schatz Ulrich A, Ghavideldarestani Maryam, Kamel Walaa A, Van Esch Hilde, Hackenberg Annette, Taylor Jenny C, Al-Gazali Lihadh, Bauer Peter, Gleeson Joseph J, Alkuraya Fowzan Sami, Lupski James R, Galehdari Hamid, Azizimalamiri Reza, Chung Wendy K, Baig Shahid Mahmood, Houlden Henry, Severino Mariasavina
Abstract excerpt
MED27 is a subunit of the Mediator multiprotein complex, which is involved in transcriptional regulation. Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder with spasticity, cataracts and cerebellar hypoplasia. We further delineate the clinical phenotype of MED27-related disease by characterizing the clinical and radiological features of...
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