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 - Sprecher, E; Ishida-Yamamoto, A; Mizrahi-Koren, M (Am J Hum Genet, 2005)
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