Affiliation: Centre Hospitalier Universitaire Vaudois
- A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small villageL Bonafe
Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
Clin Genet 64:28-35. 2003....
- Autosomal dominant nemaline myopathy: a new phenotype unlinked to previously known genetic lociP Y Jeannet
Neuropediatrics Unit, Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland
Neuromuscul Disord 17:6-12. 2007..No linkage to the five known nemaline myopathy genes (alpha-tropomyosin-3, nebulin, alpha-actin, troponin T1 and beta-tropomyosin), to the ryanodine receptor gene (associated with core-rod myopathy) or to the 15q21-23 locus was found...