Associated Papers
Genetic, Clinical and Neuroradiological Spectrum of MED-Related Disorders: An Updated Review.
Fazio A et al.
Genes, 2025
Prenatal Phenotypic Expansion: A Fetus With Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, and Brain Abnormalities (NDDRSB) and MED11 Variants.
Zhou C et al.
Prenatal Diagnosis, 2025
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Calì E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
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