During the last two to three decades, a large body of work has revealed the molecular basis
of many human disorders, including retinal and vitreoretinal degenerations and …

Familial exudative vitreoretinopathy (FEVR) is a heritable vitreoretinopathy characterized by
anomalous retinal vascular development. The principal feature of the disease is an …

Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous disorder
characterized by abnormal vascularization of the peripheral retina, which can result in retinal …

Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal
vascular system. Although mutations in three genes (LRP5, FZD4, and NDP) are known to …

Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous retinal disorder
characterized by abnormal vascularisation of the peripheral retina, often accompanied by …

Wnt signaling is a crucial component of the cell machinery orchestrating a series of
physiological processes such as cell survival, proliferation, and migration. Among the …

Purpose.: Familial exudative vitreoretinopathy (FEVR) is a developmental disease that can
cause visual impairment and retinal detachment at a young age. Four genes involved in the …

Reduced bone mineral density (BMD; ie, Z‐score≤− 2.0) occurring at a young age (ie,
premenopausal women and men< 50 years) in the absence of secondary osteoporosis is …

Polycystic livers are seen in the rare inherited disorder isolated polycystic liver disease
(PCLD) and are recognized as the most common extrarenal manifestation in autosomal …

Purpose: To identify potentially pathogenic variants (PPVs) in Chinese familial exudative
vitreoretinopathy (FEVR) patients in FZD4, LRP5, NDP, TSPAN12, ZNF408, and KIF11 …