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CEDNIK syndrome

Saturday 25 June 2005

CEDNIK syndrome is a neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma.

Etiology

- SNAP29 mutations in CEDNIK syndrome (15968592)

References

- 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. 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. Am J Hum Genet. 2005 Aug;77(2):242-51. PMID: 15968592