R B Lowry
Affiliation: University of Calgary
- Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 geneR B Lowry
Department of Medical Genetics, Alberta Children s Hospital and University of Calgary, Calgary, Alberta, Canada
Am J Med Genet 104:112-9. 2001..We also report a single case with an identical phenotype without the mutation...
- Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1FK N Alagramam
Department of Pediatrics, Rainbow Babies and Children s Hospital, University Hospitals of Cleveland, Case Western Reserve University, Cleveland, OH, USA
Hum Mol Genet 10:1709-18. 2001..This report shows that protocadherins are essential for maintenance of normal retinal and cochlear function...
- Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR)I Meloni
J Med Genet 39:359-65. 2002
- Bowen-Conradi syndrome: a clinical and genetic studyR B Lowry
Department of Medical Genetics, Alberta Children s Hospital and the University of Calgary, Canada
Am J Med Genet A 120:423-8. 2003..For those who were not seen, their clinical record were scrutinized. Pedigree analysis of all 39 was done and kinship coefficients computed. The birth prevalence was estimated to be 1/355 live births...