Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly

Rubinstein–Taybi syndrome (RSTS) is a human genetic disorder characterized by distinctive craniofacial features, broad thumbs and halluces, and intellectual disability. Mutations in the CREB binding protein (CREBBP) and E1A binding protein p300 (EP300) are the known causes of RSTS disease. EP300 reg...

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Detalles Bibliográficos
Autores principales: Park, Jong Eun, Kim, Eunmi, Lee, Dong-Won, Park, Taek Kyu, Kim, Min Sun, Jang, Shin Yi, Ahn, Jaemyung, Park, Kwang Bo, Kim, Keon-Ha, Park, Hae-Chul, Ki, Chang-Seok, Kim, Duk-Kyung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8342626/
https://www.ncbi.nlm.nih.gov/pubmed/34354133
http://dx.doi.org/10.1038/s41598-021-95133-0

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