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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4394500/
https://www.ncbi.nlm.nih.gov/pubmed/25768348
http://dx.doi.org/10.3390/ijms16035697

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4394500/
https://www.ncbi.nlm.nih.gov/pubmed/25768348
http://dx.doi.org/10.3390/ijms16035697

Ejemplares similares