Article
Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.
Clinical genetics - 1 Mar 2020
Alkuraya Hisham, Patel Nisha, Ibrahim Niema, Al Ghamdi Bandar, Alsulaiman Sulaiman M, Nowilaty Sawsan R, Abboud Emad, Alturki Ramadan, Alkharashi Abdullah, Eyaid Wafaa, Almasseri Zainab, Alzaidan Hamad, Alotaibi Mohammed D, Abu El-Asrar Ahmed M, Alamro Bandar, Helaby Rana, Elshaer Amani, Almontashiri Naif A M, Al-Hussaini Abdulrahman A, Alkuraya Fowzan S
Abstract excerpt
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 patients homozygous for RAMSVPS syndrome causative IGFBP7 variant. New clinical details on 22 previously published and 8 previously unpublished...
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