Kasbekar, Shivani A
Corneal endothelial dysfunction in Pearson syndrome. [electronic resource]
- Ophthalmic genetics
- 55-7 p. digital
Publication Type: Case Reports; Journal Article
1744-5094
10.3109/13816810.2011.610862 doi
Acyl-CoA Dehydrogenase, Long-Chain--deficiency
Blepharoptosis--diagnosis
Child
Congenital Bone Marrow Failure Syndromes
Corneal Edema--diagnosis
DNA, Mitochondrial--genetics
Endothelium, Corneal--pathology
Fatal Outcome
Humans
Lipid Metabolism, Inborn Errors--complications
Male
Mitochondrial Diseases--complications
Muscular Diseases--complications
Ophthalmoplegia--diagnosis
Retinitis Pigmentosa--diagnosis