Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report

• मुख्य लेखकों: Mohammad M. Al-Qattan (लेखक), Abdulaziz Jarman (लेखक), Atif Rafique (लेखक), Zuhair N. Al-Hassnan (लेखक), Heba M. Al-Qattan (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2019-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract Background Rubinstein-Taybi syndrome (RSTS) Type 1 (OMIM 180849) is characterized by three main features: intellectual disability; broad and frequently angulated thumbs and halluces; and characteristic facial dysmorphism. Case presentation We report on a Saudi boy with RSTS Type 1 and the f...