Retinal arteriolar macroaneurysms with supravalvular pulmonic stenosis in the United Arab Emirates.
Sign Up to like & getrecommendations! 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… read more here.
Keywords: macroaneurysms supravalvular; arteriolar macroaneurysms; supravalvular pulmonic; retinal arteriolar ... See more keywords
Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome
Sign Up to like & getrecommendations! 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… read more here.
Keywords: macroaneurysms supravalvular; arterial macroaneurysms; supravalvular pulmonic; stenosis ... See more keywords