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Paper Details

Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.
Clin Genet
3
2023
Donnai-Barrow syndrome, Hereditary deafness, LRP2, LRP2 variants, Lrp2, Thr50Ser, Tyr3933Cys, c.149C, c.7715+3A, c.8452_8452+1del, consensus donor, consensus splice-altering variant, deafness, deficiency of LRP2, hearing loss, hereditary hearing loss, mouse, retinal dystrophy, stria vascularis marginal, stria vascularis marginal cells
Author NameAffiliation
Ambroise WonkamUniversity of Cape Town
Ambroise WonkamMcKusick-Nathans Institute and Department of Genetic Medicine, Johns Hopkins University School of Medicine
Suzanne M LealCenter for Statistical Genetics, Columbia University Medical Center
Suzanne M LealTaub Institute for Alzheimer's Disease and the Aging Brain, Columbia University Medical Center
Carmen C Brewer
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