Cardiovascular Findings in a Contemporary Cohort of Patients With 1p36 Deletion Syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Cardiac Failure"
DOI: 10.1016/j.cardfail.2018.07.321
Abstract: Introduction In this study, we evaluated patients with 1p36 deletion syndrome to delineate cardiovascular involvement. Methods We approached patients from the 1p36 Deletion Support & Awareness National conference in 2014 to participate in this cross-sectional… read more here.
Keywords: deletion syndrome; patients 1p36; 1p36 deletion; study ... See more keywords
Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Cytogenetics"
DOI: 10.1186/s13039-020-00510-5
Abstract: Background Monosomy of 1p36 is considered the most common terminal microdeletion syndrome. It is characterized by intellectual disability, growth retardation, seizures, congenital anomalies, and distinctive facial features that are absent when the deletion is proximal,… read more here.
Keywords: duane retraction; 1p36 deletion; deletion; retraction syndrome ... See more keywords