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Results: 2
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
Authors: Sprecher, Eli Ishida-Yamamoto, Akemi Miizrahi-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
Citation: Sprecher, Eli et al., 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 , 77(2), 2005, pp. 242-251
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation
Authors: Sarig, Ofer Nahum, Sagi Rapaport, Debora
Citation: Sarig, Ofer et al., Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation, American journal of human genetics (Online) AJHG , 91(2), 2012, pp. 337-342
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