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Published in 2017 at "HeartRhythm Case Reports"
DOI: 10.1016/j.hrcr.2017.03.002
Abstract: Introduction Congenital heart block (CHB) has long been associated with maternal anti-SSA/Ro antibodies. Injury to the conduction system is presumed to be a consequence of the transplacental passage of maternal IgG autoantibodies into the fetal…
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Keywords:
heart;
block;
case;
congenital heart ... See more keywords
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Published in 2022 at "Progress in Retinal and Eye Research"
DOI: 10.1111/j.1755-3768.2022.15380
Abstract: Myopia is the most common eye disorder, caused by heterogeneous genetic and environmental factors. Rare progressive and stationary inherited retinal disorders are often associated with high myopia. Genes implicated in myopia encode proteins involved in…
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Keywords:
complete congenital;
night blindness;
myopia;
congenital stationary ... See more keywords
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Published in 2017 at "Case Reports in Ophthalmology"
DOI: 10.1159/000462961
Abstract: Background: This report describes a 45-year-old man with complete congenital stationary night blindness (CSNB1) who has been followed up for 38 years. Case: The patient first visited our hospital as a 7-year-old boy with a…
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Keywords:
clinical course;
congenital stationary;
night blindness;
stationary night ... See more keywords
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2
Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24010219
Abstract: Mutations in GPR179 are one of the most common causes of autosomal recessive complete congenital stationary night blindness (cCSNB). This retinal disease is characterized in patients by impaired dim and night vision, associated with other…
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Keywords:
complete congenital;
myopia;
congenital stationary;
night ... See more keywords