Johanna B G M Verheij
Affiliation: University Medical Center Groningen
Country: The Netherlands
- Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literatureJohanna B G M Verheij
Department of Medical Genetics, University Medical Centre Groningen, Groningen University, Box 30 001, 9700 RB Groningen, The Netherlands
Eur J Paediatr Neurol 10:11-7. 2006..Children presenting with features of Waardenburg syndrome and neurological dysfunction should be tested for mutations in the SOX10 gene to enable diagnosis and counselling...
- An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsionsJ B G M Verheij
Department of Genetics, University Medical Center Groningen, University of Groningen, Hanzeplein 1, Box 30 001, 9700 RB Groningen, The Netherlands
Eur J Med Genet 52:353-7. 2009..A gene that might play a role in the convulsions of our patients is KCNQ3...