SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type

SMARCA4 chromatin remodelling factor is mutated in 11% of Coffin–Siris syndrome (CSS) patients and in almost all small‐cell carcinoma of the ovary hypercalcaemic type (SCCOHT) tumours. Missense mutations with gain‐of‐function or dominant‐negative effects are associated with CSS, whereas inactivating...

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Detalles Bibliográficos
Autores principales: Errichiello, Edoardo, Mustafa, Noor, Vetro, Annalisa, Notarangelo, Lucia Dora, de Jonge, Hugo, Rinaldi, Berardo, Vergani, Debora, Giglio, Sabrina Rita, Morbini, Patrizia, Zuffardi, Orsetta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2017
Materias:
Brief Definitive Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5601212/
https://www.ncbi.nlm.nih.gov/pubmed/28608987
http://dx.doi.org/10.1002/path.4926

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