Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Genetics"
DOI: 10.1111/cge.14101
Abstract: To the Editor, The ultrarare clinical association of Duane retraction syndrome (DRS) with or without deafness and inner ear defects, has been recently related with deleterious variants in MAFB (MIM*608968) and found in few sporadic… read more here.
Keywords: retraction syndrome; inner ear; centile; duane retraction ... 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