Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome - 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; et al. (Clinical genetics, 2020)
Keywords: Adolescent; Adult; aneurysm; Arteries; Child; Child, Preschool; Cirrhosis; congenital heart disease; Echocardiography; Female; Fluorescein Angiography; Fundus Oculi; Genetic Predisposition to Disease; Hemorrhage; Homozygote; Humans; Infant; Insulin-Like Growth Factor Binding Proteins - genetics; Liver cirrhosis; Male; Morbidity; Pulmonary Valve Stenosis - complications; Pulmonary Valve Stenosis - diagnostic imaging; Pulmonary Valve Stenosis - genetics; Pulmonary Valve Stenosis - pathology; Retina; Retinal Arterial Macroaneurysm - complications; Retinal Arterial Macroaneurysm - diagnostic imaging; Retinal Arterial Macroaneurysm - genetics; Retinal Arterial Macroaneurysm - pathology; Retinal Artery - diagnostic imaging; Retinal Artery - metabolism; Retinal Artery - pathology; retinal detachment; Stenosis; Visual Acuity - genetics; Visual Acuity - physiology; Young Adult; congenital heart disease; aneurysm; retinal detachment; stenosis; hemorrhage