- [Molecular genetic mutation analysis of the PTPN11 gene in the multiple lentigines (LEOPARD) syndrome]U G Froster
Institut fur Humangenetik, Universitat Leipzig, Leipzig
Hautarzt 54:1190-2. 2003..For confirmation of the clinical diagnosis of multiple lentigines syndrome, the molecular genetic mutation analysis in the PTPN11 gene could be helpful...
- New mutations of EXT1 and EXT2 genes in German patients with Multiple OsteochondromasWolfram Heinritz
Institute of Human Genetics, Medical Faculty at the University of Leipzig, Leipzig, Germany
Ann Hum Genet 73:283-91. 2009..Our study extends the mutational spectrum and understanding of pathogenic effects of mutations in EXT1 and EXT2...
- Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 proteinJohann Böhm
Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
BMC Med Genet 9:88. 2008..In this study we present our functional analyses of the novel and unusual c.1333delC mutation found in a patient with classical HOS...