Familial exudative vitreoretinopathy (FEVR) is an inherited retinal disorder characterized by deficient vascular development in the peripheral retina 1. FEVR exhibits heterogeneous inheritance ...
Critical Path Institute (C-Path) is thrilled to announce its Polycystic Kidney Disease Outcomes Consortium (PKDOC) has been awarded an Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) ...
In studies of families with rare disease, it is common to screen for de novo mutations, as well as recessive or dominant variants that explain the phenotype. However, the filtering strategies and ...
Data from this Australian study showed a higher prevalence of intracranial aneurysms (ICAs) in patients with ADPKD compared with the general population. Many patients in the study had no known risk ...
Panel A shows the clinical characteristics and treatments for all six unrelated patients with autosomal dominant hypocalcemia type 1 (ADH1) who received continuous subcutaneous parathyroid hormone ...
Disparate Rates of Germline Variants in Cancer Predisposition Genes in African American/Black Compared With Non-Hispanic White Individuals Between 2015 and 2022 The funding sources did not play a role ...
Data from this Australian study showed a higher prevalence of intracranial aneurysms (ICAs) in patients with ADPKD compared with the general population. Many patients in the study had no known risk ...
Recent proteomic studies have offered glimpses into the biology of early Alzheimer’s disease. Two new preprints take this approach further, describing high-throughput surveys that turned up numerous ...
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