Whole Exome Sequencing for a Patient with Rubinstein-Taybi Syndrome Reveals de Novo Variants besides an Overt CREBBP Mutation

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. Cytogene...

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Bibliographic Details
Main Authors: Hee Jeong Yoo, Kyung Kim, In Hyang Kim, Seong-Hwan Rho, Jong-Eun Park, Ki Young Lee, Soon Ae Kim, Byung Yoon Choi, Namshin Kim
Format: Article
Language:English
Published: MDPI AG 2015-03-01
Series:International Journal of Molecular Sciences
Subjects:
Online Access:http://www.mdpi.com/1422-0067/16/3/5697