Clinical presentation and genetic correlation of patients with mutations affecting the FZD4 gene
KA Drenser, W Dailey, A Vinekar, K Dalal… - Archives of …, 2009 - jamanetwork.com
Objective To correlate the ophthalmic findings of patients with pediatric vitreoretinopathies
with mutations occurring in theFZD4gene. Methods A total of 123 patients diagnosed with
autosomal-dominant familial exudative vitreoretinopathy (AdFEVR) or retinopathy of
prematurity (ROP) and 42 control patients were enrolled in the study. Diagnoses were based
on retinal findings at each patient's first examination or during ROP screening. Genomic
DNA was isolated and polymerase chain reaction and direct sequencing of theFZD4gene …
with mutations occurring in theFZD4gene. Methods A total of 123 patients diagnosed with
autosomal-dominant familial exudative vitreoretinopathy (AdFEVR) or retinopathy of
prematurity (ROP) and 42 control patients were enrolled in the study. Diagnoses were based
on retinal findings at each patient's first examination or during ROP screening. Genomic
DNA was isolated and polymerase chain reaction and direct sequencing of theFZD4gene …
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