Severe form of familial exudative vitreoretinopathy caused by homozygous R417Q mutation in frizzled-4 gene

Ophthalmic Genetics

Volumn 28, Issue 4, 2007, Pages 220-223

  Kondo, Hiroyuki ^a   Qin, Minghui ^b   Tahira, Tomoko ^b   Uchio, Eiichi ^a   Hayashi, Kenshi ^b  

^a FUKUOKA UNIVERSITY   (Japan)

^b KYUSHU UNIVERSITY   (Japan)

Author keywords

Falciform retinal fold; Familial exudative vitreoretinopathy; FEVR; Frizzled 4; FZD4

Indexed keywords

ARTICLE; CASE REPORT; FEMALE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; INFANT; LEUKOKORIA; PHENOTYPE; PRIORITY JOURNAL; RETINA FOLD; RETROLENTAL FIBROPLASIA; VITREORETINOPATHY;

FEMALE; FRIZZLED RECEPTORS; HOMOZYGOTE; HUMANS; INFANT; MUTATION; RECEPTORS, G-PROTEIN-COUPLED; RETINAL DISEASES; SUPPURATION; VITREOUS BODY;

EID: 37649008329     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810701663543     Document Type: Article

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