title: Jugular pit associated with 5q14.3 deletion incorporating the MEF2C locus: a recurrent clinical finding.
authors.affiliation: aDepartment of Clinical Genetics, Our Lady's Children Hospital Crumlin bDepartment of Radiology, Temple Street Childrens University Hospital, Dublin, Ireland.
authors.forename: Maryam
authors.initials: M
authors.lastname: Al-Shehhi
authors.forename: David
authors.initials: D
authors.lastname: Betts
authors.forename: Linda
authors.initials: L
authors.lastname: Mc Ardle
authors.forename: Veronica
authors.initials: V
authors.lastname: Donoghue
authors.forename: William
authors.initials: W
authors.lastname: Reardon
mesh_terms: D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D007601:Jugular Veins / Q000473:pathology; D064326:MEF2 Transcription Factors / Q000235:genetics; D008297:Male; D012640:Seizures
chemical_list: D064326:MEF2 Transcription Factors; C578040:MEF2C protein, human