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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Vydáno v:Int J Mol Sci
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2015
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Article
On-line přístup: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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