Associated Papers
MED12-Related (Neuro)Developmental Disorders: A Question of Causality.
Plassche SV et al.
Genes, 2021
33925166 (PubMed )
Supplement: genes-12-00663-s001.zip › genes-1190333-supplementary.xlsx › Sheet1
Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients.
Suzuki H et al.
American Journal of Medical Genetics. Part A, 2020
MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.
Rubinato E et al.
European Journal of Medical Genetics, 2020
MED12-Related Disease in a Chinese Girl: Clinical Characteristics and Underlying Mechanism.
Wang C et al.
Frontiers in Genetics, 2020
32174975 (PubMed )
Supplement: Table_2.xls › ____1
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.
Donnio LM et al.
Human Molecular Genetics, 2017
A novel MED12 mutation associated with non-specific X-linked intellectual disability.
Yamamoto T et al.
Human Genome Variation, 2015
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