research Structural Abnormalities in the Hair of a Patient With a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
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5 / 7 results research Decision Letter: The Molecular Basis for ANE Syndrome Revealed by the Large Ribosomal Subunit Processome Interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – Out of the Woods
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Giant Axonal Neuropathy Alters the Structure of Keratin Intermediate Filaments in Human Hair
Giant axonal neuropathy changes the structure of keratin in human hair.
research Biomedical Applications of Organoids in Genetic Diseases
Organoids help study and treat genetic diseases, offering personalized medicine and therapy testing.
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