Rubinstein-Taybi Syndrome

Publication Title: 
International Journal of Molecular Sciences

Rubinstein-Taybi syndrome (RSTS) is a rare condition with a prevalence of 1 in 125,000-720,000 births and characterized by clinical features that include facial, dental, and limb dysmorphology and growth retardation. Most cases of RSTS occur sporadically and are caused by de novo mutations. Cytogenetic or molecular abnormalities are detected in only 55% of RSTS cases. Previous genetic studies have yielded inconsistent results due to the variety of methods used for genetic analysis.

Author(s): 
Yoo, Hee Jeong
Kim, Kyung
Kim, In Hyang
Rho, Seong-Hwan
Park, Jong-Eun
Lee, Ki Young
Kim, Soon Ae
Choi, Byung Yoon
Kim, Namshin
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