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

Volumn 77, Issue 2, 2005, Pages 242-251

  Sprecher, Eli ^a,b   Ishida Yamamoto, Akemi ^c   Mizrahi Koren, Mordechai ^a,b   Rapaport, Debora ^d   Goldsher, Dorit ^a,b   Indelman, Margarita ^a   Topaz, Orit ^a,b   Chefetz, Ilana ^a,b   Keren, Hanni ^a   O'Brien, Timothy J ^e   Bercovich, Dani ^f   Shalev, Stavit ^g   Geiger, Dan ^b   Bergman, Reuven ^a,b   Horowitz, Mia ^d   Mandel, Hanna ^a,b  

^a RAMBAM MEDICAL CENTER   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c ASAHIKAWA MEDICAL COLLEGE   (Japan)

^d TEL AVIV UNIVERSITY   (Israel)

^e UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^f MIGAL GALILEE TECHNOLOGY CENTER   (Israel)

^g HAEMEK MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEINASE;

ARTICLE; BRAIN MALFORMATION; CEDNIK SYNDROME; CELL DIFFERENTIATION; CELL GRANULE; CEREBRAL DYSGENESIS; CHROMOSOME 22Q; EMBRYO DEVELOPMENT; EPIDERMIS; GENE DELETION; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; ICHTHYOSIS; KERATOSIS PALMOPLANTARIS; LIPID ANALYSIS; MUTATOR GENE; NEUROECTODERM; NEUROLOGIC DISEASE; NEUROPATHY; PHAKOMATOSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; REGULATORY MECHANISM; SKIN MANIFESTATION; SNAP29 GENE;

EID: 22544448096     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/432556     Document Type: Article

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