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The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation.
Basel-Vanagaite L, Attia R, Yahav M, Ferland RJ, Anteki L, Walsh CA, Olender T, Straussberg R, Magal N, Taub E, Drasinover V, Alkelai A, Bercovich D, Rechavi G, Simon AJ, Shohat M. Basel-Vanagaite L, et al. Among authors: bercovich d. J Med Genet. 2006 Mar;43(3):203-10. doi: 10.1136/jmg.2005.035709. Epub 2005 Jul 20. J Med Genet. 2006. PMID: 16033914 Free PMC 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.
Sprecher E, Ishida-Yamamoto A, Mizrahi-Koren M, Rapaport D, Goldsher D, Indelman M, Topaz O, Chefetz I, Keren H, O'brien TJ, Bercovich D, Shalev S, Geiger D, Bergman R, Horowitz M, Mandel H. Sprecher E, et al. Among authors: bercovich d. Am J Hum Genet. 2005 Aug;77(2):242-51. doi: 10.1086/432556. Epub 2005 Jun 20. Am J Hum Genet. 2005. PMID: 15968592 Free PMC article.
76 results