Publication Date:
2016
Short description:
Holt Oram syndrome: a case report and review of the literature / Virdis, G., Dessole, M., Dessole, S., Ambrosini, G., Cosmi, E., Cherchi, P.L., Capobianco, G.. - In: CLINICAL AND EXPERIMENTAL OBSTETRICS & GYNECOLOGY. - ISSN 0390-6663. - 43:1(2016), pp. 137-139. [10.1289l/ceog3060.2016]
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.
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.
Iris type:
1.1 Articolo in rivista
List of contributors:
Virdis, G; Dessole, M; Dessole, Salvatore; Ambrosini, G; Cosmi, E; Cherchi, Pier Luigi; Capobianco, Giampiero
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