Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome
- 1 July 2004
- journal article
- research article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 75 (1) , 138-145
- https://doi.org/10.1086/422219
Abstract
No abstract availableKeywords
This publication has 21 references indexed in Scilit:
- The Pfam protein families databaseNucleic Acids Research, 2004
- Cohen syndrome: evaluation of its cardiac, endocrine and radiological featuresClinical Genetics, 1999
- SOI1 Encodes a Novel, Conserved Protein That Promotes TGN–Endosomal Cycling of Kex2p and Other Membrane Proteins by Modulating the Function of Two TGN Localization SignalsThe Journal of cell biology, 1997
- Gapped BLAST and PSI-BLAST: a new generation of protein database search programsNucleic Acids Research, 1997
- Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysisNature Genetics, 1994
- Tapetoretinal degeneration in brothers with apparent Cohen syndrome: Nosology with Mirhosseini‐Holmes‐Walton syndromeAmerican Journal of Medical Genetics, 1991
- Are the Mirhosseini‐Holmes‐Walton syndrome and the cohen syndrome identical?American Journal of Medical Genetics, 1986
- The syndrome of retinal pigmentary degeneration, microcephaly, and severe mental retardation (Mirhosseini‐Holmes‐Walton syndrome): Report of two patientsAmerican Journal of Medical Genetics, 1985
- A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomaliesThe Journal of Pediatrics, 1973
- Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation.Journal of Medical Genetics, 1972