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.
Holt Oram syndrome: a case report and review of the literature / Virdis, G; Dessole, M; Dessole, Salvatore; Ambrosini, G; Cosmi, E; Cherchi, Pier Luigi; Capobianco, Giampiero. - In: CLINICAL AND EXPERIMENTAL OBSTETRICS & GYNECOLOGY. - ISSN 0390-6663. - 43:1(2016), pp. 137-139. [10.1289l/ceog3060.2016]
Holt Oram syndrome: a case report and review of the literature
DESSOLE, Salvatore;CHERCHI, Pier Luigi;CAPOBIANCO, Giampiero
2016-01-01
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
