Spondylo-ocular Syndrome Due to a Novel Variant in XYLT2 in an Omani Patient
Sign Up to like & getrecommendations! Published in 2020 at "Journal of pediatric genetics"
DOI: 10.1055/s-0040-1715113
Abstract: Spondylo-ocular syndrome (SOS) is a rare autosomal recessive disorder and affects primarily ocular and spinal tissues. This case report presents an Omani child with a novel homozygous variant, c.2070 G > A (p.Trp690Ter) in XYLT2 associated with… read more here.
Keywords: ocular syndrome; xylt2; due novel; syndrome due ... See more keywords
Spaceflight-associated neuro-ocular syndrome: a review of potential pathogenesis and intervention.
Sign Up to like & getrecommendations! Published in 2022 at "International journal of ophthalmology"
DOI: 10.18240/ijo.2022.02.21
Abstract: With the continuing progress in space exploration, a new and perplexing condition related to spaceflight ocular syndrome has emerged in the past four decades. National Aeronautics and Space Administration (NASA) has named this condition "spaceflight-associated… read more here.
Keywords: associated neuro; ocular syndrome; neuro ocular; syndrome ... See more keywords
Orbital fat swelling: A biomechanical theory and supporting model for spaceflight-associated neuro-ocular syndrome (SANS)
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Bioengineering and Biotechnology"
DOI: 10.3389/fbioe.2023.1095948
Abstract: Spaceflight-Associated Neuro-ocular Syndrome (SANS) is a descriptor of several ocular and visual signs and symptoms which commonly afflicts those exposed to microgravity. We propose a new theory for the driving force leading to the development… read more here.
Keywords: theory; associated neuro; ocular syndrome; neuro ocular ... See more keywords