Affiliation: South Brisbane
- Maternal gonadal mosaicism causing ornithine transcarbamylase deficiencyF Bowling
School of Biomolecular and Biomedical Science, Griffith University, Nathan, Australia
Am J Med Genet 85:452-4. 1999..Gonadal mosaicism needs to be considered when counseling couples in which the mother has had a previously affected child with OTC deficiency but apparently is not a carrier...
- Carbohydrate-deficient glycoprotein syndrome in a newborn with an unbalanced chromosomal translocationF G Bowling
Mater Mother s Hospital, South Brisbane Q4101, Australia
Eur J Pediatr 158:794-5. 1999..They may also occur due to a number of secondary defects in glycosylation...