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Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles
Ophthalmology, 11/09/09
Khan AO et al. – Parental germline mosaicism can mimic recessive inheritance in CFEOM and likely is underrecognized. Ophthalmologists should be aware of this phenomenon when counseling parents of children with apparent recessive hereditary eye disease. Unlike other reported KIF21A mutations that cause CFEOM1, the p.R954L variant seems to be associated with abnormal pupils.
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MTHFR gene C677T and A1298C polymorphisms and homocysteine levels in primary open angle and primary closed angle glaucoma
Molecular Vision, 11/09/09
IL-33 shifts macrophage polarization, promoting resistance against Pseudomonas aeruginosa keratitis
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Documenta Ophthalmologica, 11/03/09
Today in Pediatric Ophthalmology...keeping you current
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Ocular manifestations of the Johanson-Blizzard syndrome
Journal of American Association for Pediatric Ophthalmology and Strabismus , 11/03/09
Retinopathy of Prematurity
NeoReviews, 11/04/09
Trilateral retinoblastoma: Potentially curable with intensive chemotherapy
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