Of men and mice: Human X-linked retinoschisis and fidelity in mouse modeling
Abstract
X-linked Retinoschisis (XLRS) is an early-onset transretinal dystrophy, often with a prominent macular component, that affects males and generally spares heterozygous females because of X-linked recessive inheritance. It results from loss-of-function RS1 gene mutations on the X-chromosome. XLRS causes bilateral reduced acuities from young age, and on clinical exam and by ocular coherence tomography (OCT) the neurosensory retina shows...
Paper Details
Title
Of men and mice: Human X-linked retinoschisis and fidelity in mouse modeling
Published Date
Mar 1, 2022
Volume
87
Pages
100999 - 100999
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