- Pregnancy in a healthy woman with untreated citrullinemiaMurray A Potter
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
Am J Med Genet A 129:77-82. 2004..Although pregnancy is an important risk factor for women with CTLN1, it appears that females with citrullinemia can have normal pregnancy outcomes, as long as metabolic crisis is avoided...
- De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndromeJohn S Waye
1Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada
Am J Med Genet A 143:1799-801. 2007