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Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report

Abstract Background We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD). Case presentation A 26-year-old white woman, born at term by natural delivery presented with a post-natal diagnosis...

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Gorde:
Egile Nagusiak: D. Allegrini, S. Penco, A. Pece, A. Autelitano, G. Montesano, S. Paci, C. Montanari, A. Maver, B. Peterlin, G. Damante, L. Rossetti
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMC 2017-06-01
Saila:BMC Ophthalmology
Gaiak:
Glycogen storage disease type IA
Hypoglycemic cataract
Hypocalcemic cataract
DiGeorge syndrome
Optic disk drusen
Microdeletion 22q11.2
Sarrera elektronikoa:http://link.springer.com/article/10.1186/s12886-017-0499-y
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