CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome

Rubinstein–Taybi syndrome (RTS) is a rare autosomal dominant congenital disorder characterized by distinctive facial features, broad thumbs and halluces, growth retardation, and a variable degree of cognitive impairment. CREBBP is the major causative gene and mutations in EP300 are the cause of RTS...

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Vydáno v:Mol Genet Genomic Med
Hlavní autoři: Wincent, Josephine, Luthman, Aron, van Belzen, Martine, van der Lans, Christian, Albert, Johanna, Nordgren, Ann, Anderlid, Britt‐Marie
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2015
Témata:
Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4707034/
https://ncbi.nlm.nih.gov/pubmed/26788536
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.177
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