Associated Papers
Correction to: Increased unfolded protein responses caused by MED17 mutations.
Terabayashi T et al.
Neurogenetics, 2022
Increased unfolded protein responses caused by MED17 mutations.
Terabayashi T et al.
Neurogenetics, 2021
Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature.
Agostini A et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018
Distinct but milder phenotypes with choreiform movements in siblings with compound heterozygous mutations in the transcription preinitiation mediator complex subunit 17 (MED17).
Hirabayashi S et al.
Brain & Development, 2016
An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay.
Rafiullah R et al.
Journal of Neurogenetics, 0
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