Article
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.
American journal of human genetics - 1 Aug 2005
Sprecher Eli, Ishida-Yamamoto Akemi, Mizrahi-Koren Mordechai, Rapaport Debora, Goldsher Dorit, Indelman Margarita, Topaz Orit, Chefetz Ilana, Keren Hanni, O'brien Timothy J, Bercovich Dani, Shalev Stavit, Geiger Dan, Bergman Reuven, Horowitz Mia, Mandel Hanna
Abstract excerpt
Neurocutaneous syndromes represent a vast, largely heterogeneous group of disorders characterized by neurological and dermatological manifestations, reflecting the common embryonic origin of epidermal and neural tissues. In the present report, we describe a novel neurocutaneous syndrome character...
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