Benign and malignant tumors in Rubinstein–Taybi syndrome

Rubinstein–Taybi syndrome (RSTS) is a multiple congenital anomalies syndrome associated with mutations in CREBBP (70%) and EP300 (5–10%). Previous reports have suggested an increased incidence of specific benign and possibly also malignant tumors. We identified all known individuals diagnosed with R...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Boot, Max V., van Belzen, Martine J., Overbeek, Lucy I., Hijmering, Nathalie, Mendeville, Matias, Waisfisz, Quinten, Wesseling, Pieter, Hennekam, Raoul C., de Jong, Daphne
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5838508/
https://ncbi.nlm.nih.gov/pubmed/29359884
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38603
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