[On an unusual congenital and familial neuro-ophthalmological syndrome (palpebral ptosis, aniridia, cataract, nystagmus, optic subatrophy)].
D000328:Adult; D001763:Blepharoptosis / Q000235:genetics*; D002386:Cataract / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D009759:Nystagmus, Pathologic / Q000235:genetics*; D009896:Optic Atrophy / Q000235:genetics*
Su di una singolare sindrome NEURO-oftalmologica congenita e familiare (ptosi palpebrale, aniridia, cataratta, nistagmo, subatrofia ottica)