Rubinstein-Taybi Syndrome: spectrum of <it>CREBBP </it>mutations in Italian patients

• Prif Awduron: Uzielli Maria (Awdur), Divizia Maria T (Awdur), Atzeri Francesca (Awdur), Giordano Lucio (Awdur), Colapietro Patrizia (Awdur), Manzini Stefano (Awdur), Mottadelli Federica (Awdur), Castronovo Paola (Awdur), Gervasini Cristina (Awdur), Milani Donatella (Awdur), Bentivegna Angela (Awdur), Neri Giovanni (Awdur), Bedeschi Maria F (Awdur), Faravelli Francesca (Awdur), Selicorni Angelo (Awdur), Larizza Lidia (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: BMC, 2006-10-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Rubinstein-Taybi Syndrome (RSTS, MIM 180849) is a rare congenital disorder characterized by mental and growth retardation, broad and duplicated distal phalanges of thumbs and halluces, facial dysmorphisms and increased risk of tumors...