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

Por Errichiello, Edoardo, Mustafa, Noor, Vetro, Annalisa, Notarangelo, Lucia Dora, de Jonge, Hugo, Rinaldi, Berardo, Vergani, Debora, Giglio, Sabrina Rita, Morbini, Patrizia, Zuffardi, Orsetta
Publicado no J Pathol (2017)

MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome

Por Vetro, Annalisa, Savasta, Salvatore, Russo Raucci, Annalisa, Cerqua, Cristina, Sartori, Geppo, Limongelli, Ivan, Forlino, Antonella, Maruelli, Silvia, Perucca, Paola, Vergani, Debora, Mazzini, Giuliano, Mattevi, Andrea, Stivala, Lucia Anna, Salviati, Leonardo, Zuffardi, Orsetta
Publicado no Eur J Hum Genet (2017)