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What is RVCL? (also known as RVCL-S, CRV, or HERNS) Retinal vasculopathy with cerebral leukoencephalopathy (RVCL or RVCL-S) is a rare genetic disease that affects the small blood vessels RVCL is caused by inherited mutations in the TREX1 gene RVCL is associated with damage to multiple organs including the brain, eyes, kidneys, liver, and bones
The RVCL Research Center - Perelman School of Medicine at the . . . Retinal vasculopathy with cerebral leukoencephalopathy (RVCL, also known as RVCL-S or HERNS) is a rare disease that affects 100% of people with mutations in a specific region of the TREX1 gene In families affected by RVCL, about half of all family members have the disease
[HERNS. A rare, hereditary, multisystemic disease with cerebral . . . Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is an autosomally dominant inherited, multisystemic disease presenting with leukoencephalopathy, progressive visual loss, and nephropathy Furthermore, psychiatric symptoms and migraine may occur
About RVCL-S - Washington University in St. Louis Since RVCL is such a rare disease, it also has been referred to by several names: retinal vasculopathy with cerebral leukodystrophy (RVCL), cerebroretinal vasculopathy (CRV), hereditary endotheliopathy, retinopathy, nephropathy and stroke (HERNS) and hereditary vascular retinopathy (HVR)
HERNS syndrome - Orphanet The documents contained in this website are presented for information purposes only The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment