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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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: MDPI 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4394500/
https://ncbi.nlm.nih.gov/pubmed/25768348
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms16035697
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