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.
Search
forLearn
0 / 0 results — no results
Research
5 / 6 results 
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 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 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 Author Response: The Molecular Basis for ANE Syndrome Revealed by the Large Ribosomal Subunit Processome Interactome
Defective protein folding due to a mutation is key in ANE syndrome.
Community Join
0 / 0 results — no results