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..1;q22.11)mat.ish der(21)t(17;21) (D17S375 x 3, D21S65-)] and with biochemical and clinical features of a carbohydrate deficient glycoprotein syndrome is reported. This chromosomal disruption is another secondary cause of the disorder...