Publication | Open Access

A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma

Snare Protein InvolvedNeuromuscular JunctionCerebral DysgenesisDevelopmental BiologySclerodermaGenetic DisorderDegenerative DiseaseMolecular NeurobiologyDermatologyIntracellular TraffickingNeuropathologyMedicineCell BiologyNeurogeneticsConnective Tissue Disease