Fundus albipunctatus associated with compound heterozygous mutations in RPE65
Research output: Contribution to journal › Journal article › Research › peer-review
To describe a family with an 18-year-old woman with fundus albipunctatus and compound heterozygous mutations in RPE65 whose unaffected parents and 1 female sibling harbored single heterozygous RPE65 mutations.
| Original language | English |
|---|---|
| Journal | Ophthalmology |
| Volume | 118 |
| Issue number | 5 |
| Pages (from-to) | 888-94 |
| Number of pages | 7 |
| ISSN | 0161-6420 |
| DOIs | |
| Publication status | Published - 2011 |
ID: 40174470