Type I Hyperprolinemia in a Family Suffering from Aniridia and Severe Dystrophia of Ocular Tissues
- 31 December 1975
- journal article
- research article
- Published by S. Karger AG in Ophthalmologica
- Vol. 173 (1) , 1-10
- https://doi.org/10.1159/000307812
Abstract
An Italian family affected with type I hyperprolinemia and an ocular syndrome characterized by aniridia and severe dystrophia of ocular tissues was studied. In the propositus the ocular syndrome was associated with severe mental deterioration and muscular spasticity.Keywords
This publication has 1 reference indexed in Scilit:
- Familial HyperprolinemiaNew England Journal of Medicine, 1965