PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome.
Sign Up to like & getrecommendations! Published in 2018 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.11.021
Abstract: Expression of the fusion genes is considered to be an important mechanism of tumorigenesis. However it is hardly ever discussed in relation to the neurodevelopmental disorders. Here we report on an 18-years-old female patient with… read more here.
Keywords: fusion transcript; puf60 scrib; scrib fusion; verheij syndrome ... See more keywords
First report of tethered cord syndrome in a patient with Verheij syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2022.2121968
Abstract: BACKGROUND Verheij syndrome (VRJS) is a rare microdeletion syndrome of chromosome 8q24.3 that is characterized by severe growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, psychomotor retardation, cardiac and renal defects, and dysmorphic facial features. Pathogenic… read more here.
Keywords: cord syndrome; report; patient verheij; tethered cord ... See more keywords