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.
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Hanna Mandel | Eli Sprecher | H. Mandel | D. Goldsher | A. Ishida-Yamamoto | D. Geiger | M. Indelman | D. Bercovich | R. Bergman | E. Sprecher | M. Horowitz | T. O'brien | S. Shalev | Mordechai Mizrahi-Koren | D. Rapaport | O. Topaz | I. Chefetz | Hanni Keren | Dani Bercovich | Reuven Bergman | Dorit Goldsher | Akemi Ishida-Yamamoto | Stavit Shalev | Mordechai Mizrahi-Koren | Debora Rapaport | Margarita Indelman | Orit Topaz | Ilana Chefetz | Hanni Keren | Timothy J O'brien | Dan Geiger | Mia Horowitz | A. Ishida‐Yamamoto | Ilana Chefetz
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