Investigation of a complex phenotype involving craniosynostosis and cataracts leads to identification of a novel mutation related to galactosemia type II

dc.contributor.author	Medeiros, Leonardo Simão	pt_BR
dc.contributor.author	Oliveira, Bibiana Mello de	pt_BR
dc.contributor.author	Silva, Thiago Oliveira	pt_BR
dc.contributor.author	Souza, Carolina Fischinger Moura de	pt_BR
dc.contributor.author	Poswar, Fabiano de Oliveira	pt_BR
dc.contributor.author	Refosco, Lilia Farret	pt_BR
dc.contributor.author	Ludwig, Nataniel Floriano	pt_BR
dc.contributor.author	Tonon, Tássia	pt_BR
dc.contributor.author	Bitencourt, Fernanda Hendges de	pt_BR
dc.contributor.author	Schwartz, Ida Vanessa Doederlein	pt_BR
dc.date.accessioned	2022-10-27T04:50:58Z	pt_BR
dc.date.issued	2021	pt_BR
dc.identifier.uri	http://hdl.handle.net/10183/250446	pt_BR
dc.format.mimetype	application/pdf	pt_BR
dc.language.iso	eng	pt_BR
dc.relation.ispartof	Clinical and biomedical research. Porto Alegre	pt_BR
dc.rights	Open Access	en
dc.subject	Medicina	pt_BR
dc.title	Investigation of a complex phenotype involving craniosynostosis and cataracts leads to identification of a novel mutation related to galactosemia type II	pt_BR
dc.type	Resumo publicado em evento	pt_BR
dc.contributor.event	Hospital de Clínicas de Porto Alegre. Semana Científica. (41. : 2021 : Porto Alegre, RS)	pt_BR
dc.identifier.nrb	001150574	pt_BR
dc.type.origin	Nacional	pt_BR

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