A novel splice site mutation in anthrax toxin receptor 2 (Capillary morphogenesis protein 2) gene results in systemic hyalinosis
Author:
Publisher
Medknow
Subject
Psychiatry and Mental health,Neuropsychology and Physiological Psychology
Reference14 articles.
1. Infantile systemic hyalinosis: Case report and review of the literature;Lindvall;J Am Acad Dermatol,2008
2. Härter B, Benedicenti F, Karall D. Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation. Molecular genetics & genomic medicine, 8(6), e1203.
3. Infantile systemic hyalinosis: Report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis;Landing;Pediatr Pathol,1986
4. Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis;Hanks;Am J Hum Genet,2003
5. Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis;Dowling;Am J Hum Genet,2003
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