- Autosomal dominant inheritance of Barber-Say syndromeM B Dinulos
Division of Medical Genetics, Department of Pediatrics, University of Washington School of Medicine and Children s Hospital and Regional Medical Center, Seattle, Washington 98105 0371, USA
Am J Med Genet 86:54-6. 1999..The parents of the patient reported by Santana et al. [1993: Am. J. Med. Genet. 47:20-23] were consanguineous, suggesting autosomal recessive inheritance in other cases...
- Catecholamines in patients with 22q11.2 deletion syndrome and the low-activity COMT polymorphismW D Graf
Department of Pediatrics, University of Washington, Seattle, USA
Neurology 57:410-6. 2001..To investigate catecholamine phenotypes and the effects of a tyrosine hydroxylase inhibitor in individuals with the 22q11.2 deletion syndrome and low-activity catechol-O-methyltransferase (COMT)...