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Titel:

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Dokumenttyp:
Article; Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Autor(en):
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, S...     »
Abstract:
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 57 affected individuals from 30 unrelated families with biallelic MED27 variants. Us...     »
Zeitschriftentitel:
Brain
Jahr:
2023
Band / Volume:
146
Heft / Issue:
12
Seitenangaben Beitrag:
5031-5043
Volltext / DOI:
doi:10.1093/brain/awad257
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/37517035
Print-ISSN:
0006-8950
TUM Einrichtung:
Institut für Humangenetik (Prof. Winkelmann); Klinik und Poliklinik für Frauenheilkunde (Prof. Kiechle)
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