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
Titel:
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
Auteur:
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