Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees

Ophthalmic Genetics

Volumn 30, Issue 1, 2009, Pages 23-30

  Robitaille, Johane M ^a,b   Wallace, Karin ^a   Zheng, Binyou ^a   Beis, M Jill ^b   Samuels, Mark ^c   Hoskin Mott, Ann ^a   Guernsey, Duane L ^a  

^a DALHOUSIE UNIVERSITY   (Canada)

^b IWK HEALTH CENTRE   (Canada)

^c UNIVERSITY OF MONTREAL   (Canada)

Author keywords

Familial exudative vitreoretinopathy; Frizzled 4; Persistent fetal vasculature

Indexed keywords

AMINO ACID; ANTIBIOTIC AGENT; VALPROIC ACID;

ACCOMMODATION PARALYSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BIRTH; CATARACT; CATARACT EXTRACTION; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CORNEA; DIODE LASER; DISEASE COURSE; DISEASE SEVERITY; ECHOOCULOGRAPHY; ENOPHTHALMOS; EYE DISEASE; EYE EXAMINATION; FAMILIAL DISEASE; FAMILIAL EXUDATIVE VITREORETINOPATHY; FEMALE; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INFANT; LENS; MALE; MISSENSE MUTATION; MYOCLONUS EPILEPSY; OPHTHALMOSCOPY; OPTIC NERVE; PEDIGREE; PERSISTENT FETUS VASCULATURE; PERSISTENT PULMONARY HYPERTENSION; PHARYNGITIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RELATIVE; RETINA BLOOD VESSEL; RETINA DETACHMENT; RETINA FOLD; RETINA FOVEA; RETINA TEAR; RETROSPECTIVE STUDY; STREPTOCOCCUS INFECTION; THIRD TRIMESTER PREGNANCY; VASCULAR DISEASE; VISUAL ACUITY; VISUAL DISORDER; VITRECTOMY; VITREORETINOPATHY;

CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXUDATES AND TRANSUDATES; EYE PROTEINS; FEMALE; FOLLOW-UP STUDIES; FRIZZLED RECEPTORS; HUMANS; INFANT; LDL-RECEPTOR RELATED PROTEINS; MALE; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; PERSISTENT HYPERPLASTIC PRIMARY VITREOUS; PHENOTYPE; POLYMERASE CHAIN REACTION; RECEPTORS, G-PROTEIN-COUPLED; RETINAL VESSELS; VITREORETINOPATHY, PROLIFERATIVE;

EID: 61649121067     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810802464312     Document Type: Article

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