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Published in 2021 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2021.1978104
Abstract: PURPOSE Retinal arteriolar macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS) is a rare syndrome that to date has only been reported in Saudi Arabian families. All tested patients have been homozygous for a single IGFBP7 splice…
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Keywords:
macroaneurysms supravalvular;
arteriolar macroaneurysms;
supravalvular pulmonic;
retinal arteriolar ... See more keywords
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Published in 2019 at "Clinical Genetics"
DOI: 10.1111/cge.13676
Abstract: Retinal arterial macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS), also known as Familial Retinal Arterial Macroaneurysms (FRAM) syndrome, is a very rare multisystem disorder. Here, we present a case series comprising ophthalmologic and systemic evaluation of…
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Keywords:
macroaneurysms supravalvular;
arterial macroaneurysms;
supravalvular pulmonic;
stenosis ... See more keywords