Affiliation: The Hospital for Sick Children
- Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?Shailly Jain-Ghai
Hospital for Sick Children, 555 University Ave, Toronto, Ontario, Canada M5G1X8
Mol Genet Metab 104:107-11. 2011..The index case demonstrated many of these. The cases reviewed here suggest a genotype/phenotype correlation and advocate for the addition of arginine as a primary target in newborn screening programs...
- A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotypeShailly Jain
Division of Clinical Genetics and Metabolics, Hospital for Sick Children, University of Toronto, 555 University Ave, Toronto, ON, Canada M5G 1X8
Eur J Med Genet 53:108-10. 2010..6 Mb deletion of 8q22.1. The deletion has significant chromosomal overlap with previously reported examples of NMLFS, but our patient lacks the clinical features noted in the published cases...
- Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6Shailly Jain Ghai
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON M5G 1X8, Canada
Eur J Med Genet 54:272-6. 2011..We report a patient with a clinical phenotype of severe infantile CS who has a paternally inherited 5 Mb deletion of 10q11.2 resulting in loss of one allele and a previously unreported frameshift mutation of ERCC6 on the maternal allele...