Associated Papers
Evidence of maternal inheritance of Nizon-Isidor syndrome in an individual with GAMT and TNFRSF13B sequence variants.
Dutta D et al.
Journal of Human Genetics, 2026
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Nizon M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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