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Title:

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

Document type:
Article; Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Author(s):
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...     »
Journal title abbreviation:
Brain
Year:
2023
Journal volume:
146
Journal issue:
12
Pages contribution:
5031-5043
Fulltext / DOI:
doi:10.1093/brain/awad257
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/37517035
Print-ISSN:
0006-8950
TUM Institution:
Institut für Humangenetik (Prof. Winkelmann); Klinik und Poliklinik für Frauenheilkunde (Prof. Kiechle)
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