COH1 analysis and linkage study in two Japanese families with Cohen syndrome
Authors:
- I. KondoIKI. Kondo
- A. ShimizuASA. Shimizu
- S. AsakawaSAS. Asakawa
- K. MiyamotoKMK. Miyamoto
- H. YamagataHYH. Yamagata
- Y. TabaraYTY. Tabara
- 17 January 2005
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 67 (3) , 270-272
Abstract
No abstract availableKeywords
This publication has 10 references indexed in Scilit:
- Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen SyndromeThe American Journal of Human Genetics, 2004
- Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype ScreenThe American Journal of Human Genetics, 2004
- Cohen syndrome in the Ohio AmishAmerican Journal of Medical Genetics Part A, 2004
- Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein TransportThe American Journal of Human Genetics, 2003
- Diagnostic criteria, clinical characteristics, and natural history of Cohen syndromeJournal of Medical Genetics, 2003
- Cohen Syndrome: Essential features, natural history, and heterogeneityAmerican Journal of Medical Genetics, 2001
- Refined Mapping of the Cohen Syndrome Gene by Linkage Disequilibrium1997
- Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysisNature Genetics, 1994
- The Cohen syndrome: Does mottled retina separate a finnish and a jewish type?American Journal of Medical Genetics, 1990
- A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomaliesThe Journal of Pediatrics, 1973