Associated Papers
MED23 pathogenic variant: genomic-phenotypic analysis.
Bamaga A et al.
Journal of Medicine and Life, 2024
Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly.
Salzano E et al.
Frontiers in Neurology, 2023
Novel mutation in the MED23 gene for intellectual disability: A case report and literature review.
Hashemi-Gorji F et al.
Clinical Case Reports, 2019
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Lionel AC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
MED23-associated refractory epilepsy successfully treated with the ketogenic diet.
Lionel AC et al.
American Journal of Medical Genetics. Part A, 2016
Select a paper to view details