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Ocular manifestations of 22q11.2 microduplication.
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Ocular manifestations of 22q11.2 microduplication.
Cordovez JA, Capasso J, Lingao MD, Sadagopan KA, Spaeth GL, Wasserman BN, Levin AV. Ocular manifestations of 22q11.2 microduplication. Ophthalmology. 2014 Jan; 121(1):392-398.
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PubMed
subject areas
Abnormalities, Multiple
Blepharoptosis
Child
Chromosome Aberrations
Chromosome Duplication
Chromosomes, Human, Pair 22
Claudin-5
Comparative Genomic Hybridization
DiGeorge Syndrome
Duane Retraction Syndrome
Glaucoma
Heart Defects, Congenital
Humans
Intraocular Pressure
Jaw Abnormalities
Male
Microarray Analysis
Mitogen-Activated Protein Kinase 1
Nervous System Diseases
Polymorphism, Single Nucleotide
Qb-SNARE Proteins
Qc-SNARE Proteins
Reflex, Abnormal
Retinal Diseases
Retinal Vessels
authors with profiles
Jenina Capasso
Barry Wasserman