- Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1Anne Gregor
Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
BMC Med Genet 12:106. 2011..Recently, homozygous or compound heterozygous defects in either gene were reported as causative for severe intellectual disability...
- Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of FallotRalf Rauch
Institute of Medical Genetics, Schorenstrasse 16, CH 8603 Zurich Schwerzenbach, Switzerland
J Med Genet 47:321-31. 2010..In order to get further insight into genotype-phenotype correlation, a large cohort of 230 unselected patients with ToF was comprehensively investigated...
- The shortest of the short: pericentrin mutations and beyondAnita Rauch
Institute of Medical Genetics, Schorenstrasse 16, Schwerzenbach Zurich, Switzerland
Best Pract Res Clin Endocrinol Metab 25:125-30. 2011..There is clinical overlap with the so called Seckel syndrome, a heterogeneous group of entities with at least four different gene loci known to date...