Publications by authors named "Waleed Kaplan"
Am J Med Genet A
February 2009
Article Synopsis
- Two children from an inbred Arab family are reported to have eye anomalies, growth retardation, a small pituitary gland, and hormone issues, resembling Peters-plus syndrome.
- Unlike typical cases of Peters-plus syndrome, these children exhibit growth hormone deficiency linked to a small pituitary gland, which has not been previously documented.
- Genetic testing for the B3GALTL gene, associated with Peters-plus syndrome, showed no mutations, suggesting that the children's symptoms might represent a different syndrome or a variable expression of known conditions.
