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
Eli Sprecher, Akemi Ishida-Yamamoto, Mordechai Mizrahi-Koren, Debora Rapaport, Dorit Goldsher, Margarita Indelman, Orit Topaz, Ilana Chefetz, Hanni Keren, Timothy J. O'Brien, Dani Bercovich, Stavit Shalev, Dan Geiger, Reuven Bergman, Mia Horowitz, Hanna Mandel
Research output: Contribution to journal › Article › peer-review
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