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Hanni Keren
发表
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.
Hanna Mandel, Eli Sprecher, H. Mandel, 2005, American journal of human genetics.