Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome

dc.contributor.author	Paolacci, Stefano
dc.contributor.author	Li, Yun
dc.contributor.author	Agolini, Emanuele
dc.contributor.author	Carrero Muñiz, Dido
dc.contributor.author	Velasco Cotarelo, María Gloria
dc.contributor.author	López Otín, Carlos
dc.date.accessioned	2019-03-05T13:08:22Z
dc.date.available	2019-03-05T13:08:22Z
dc.date.issued	2018
dc.identifier.citation	Journal Of Medical Genetics, 55(12), p. 837-845 (2018); doi:10.1136/jmedgenet-2018-105528
dc.identifier.issn	0022-2593
dc.identifier.issn	1468-6244
dc.identifier.uri	http://hdl.handle.net/10651/50723
dc.description.sponsorship	Deutsche Forschungsgemeinschaft [SFB1002]; Italian Ministry of Health; Fondazione Bambino Gesu (Vite Coraggiose)
dc.description.statementofresponsibility	Paolacci, S., Li, Y., Agolini, E., Bellacchio, E., Arboleda-Bustos, C.E., Carrero, D., Bertola, D., Al-Gazali, L., Alders, M., Altmuller, J., Arboleda, G., Beleggia, F., Bruselles, A., Ciolfi, A., Gillessen-Kaesbach, G., Krieg, T., Mohammed, S., Muller, C., Novelli, A., Ortega, J., Sandoval, A., Velasco, G., Yigit, G., Arboleda, H., Lopez-Otin, C., Wollnik, B., Tartaglia, M., Hennekam, R.C.
dc.format.extent	p. 837-845
dc.language.iso	eng
dc.relation.ispartof	Journal Of Medical Genetics
dc.rights	©,
dc.source	WOS:000452764200007
dc.title	Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome
dc.type	journal article
dc.identifier.doi	10.1136/jmedgenet-2018-105528
dc.relation.publisherversion	http://dx.doi.org/10.1136/jmedgenet-2018-105528

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