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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Dettagli Bibliografici
Pubblicato in:J Pathol
Autori principali: Errichiello, Edoardo, Mustafa, Noor, Vetro, Annalisa, Notarangelo, Lucia Dora, de Jonge, Hugo, Rinaldi, Berardo, Vergani, Debora, Giglio, Sabrina Rita, Morbini, Patrizia, Zuffardi, Orsetta
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley & Sons, Ltd 2017
Soggetti:
Brief Definitive Reports
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5601212/
https://ncbi.nlm.nih.gov/pubmed/28608987
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/path.4926
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