title: Holt Oram syndrome: a case report and review of the literature.
abstract: Holt Oram syndrome is a rare autosomal dominant syndrome on average, of varying severity, which may result in heterogeneous pictures, predominantly with involvement of the bony segments of the upper limbs and the cardiovascular system. The syndrome is caused by mutations in two genes of the T-box (TBX5, 601 620 and TBX 3) located on the 12q24.1p. The authors report a case and review the literature.
authors.forename: G
authors.initials: G
authors.lastname: Virdis
authors.forename: M
authors.initials: M
authors.lastname: Dessole
authors.forename: S
authors.initials: S
authors.lastname: Dessole
authors.forename: G
authors.initials: G
authors.lastname: Ambrosini
authors.forename: E
authors.initials: E
authors.lastname: Cosmi
authors.forename: P L
authors.initials: PL
authors.lastname: Cherchil
authors.forename: G
authors.initials: G
authors.lastname: Capobianco
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging*; D006344:Heart Septal Defects, Atrial / Q000000981:diagnostic imaging*; D006801:Humans; D038061:Lower Extremity Deformities, Congenital / Q000000981:diagnostic imaging*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal / Q000379:methods*; D038062:Upper Extremity Deformities, Congenital / Q000000981:diagnostic imaging*