A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes.

TitleA novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes.
Publication TypeJournal Article
AuthorsGiorgio, E, Sirchia, F, Bosco, M, Sobreira, NLygia M, Grosso, E, Brussino, A, Brusco, A
Corporate AuthorsBaylor-Hopkins Center for Mendelian Genomics
PubMed ID30561119
PubMed Central IDPMC6349533
Grant ListUM1 HG008900 / HG / NHGRI NIH HHS / United States
U54 HG006542 / HG / NHGRI NIH HHS / United States
UM1 HG008900 / / National Heart, Lung, and Blood Institute /
1U54HG006542 / / National Human Genome Research Institute /
Dipartimenti di Eccellenza 2018 - 2022 project code D15D18000410001 / / Ministero dell'Istruzione, dell'Università e della Ricerca /
/ / Fondazione Umberto Veronesi /
/ / National Eye Institute /