article_metadata: Gabriella Doddato Alessandra Fabbiani Chiara Fallerini Mirella Bruttini Theodora Hadjistilianou Martino Landi Caterina Coradeschi Salvatore Grosso Barbara Tomasini Maria Antonietta Mencarelli Alessandra Renieri Francesca Ariani
article_metadata: 10.3389/fgene.2021.761264
article_metadata: Front Genet
article_metadata: 2021 Dec 3;12:761264.
article_metadata: xylt2 exome sequencing (es) skeletal dysplasia spondyloocular syndrome (sos) xylosyltransferase ii
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/34925453/
article_metadata: Case Reports
article_metadata: PMC8680350
article_metadata: 34925453
article_metadata: Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype
article_metadata: 2021