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Dragging the macula: a comet‑like falciform retinal fold in NDP‑related familial exudative vitreoretinopathy in a child.
Novel nonsense variant of KIF11 in a patient with MCLMR.
A novel variant p.Y250C of FZD4 influences Norrine/β-catenin signaling pathway that associates with familial exudative vitreoretinopathy (FEVR).
An induced pluripotent stem cell line (SJTUXHi003-A) derived from a patient with copy number variation in the gene LRP5 causing familial exudative vitreoretinopathy.
Early Onset High Myopia and Severe Anisometropia Associated With Familial Exudative Vitreoretinopathy of Irregular Dominant Inheritance in 11 Chinese Families: Analysis of Refraction Features and Pathogenic Variations.