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
10.3389/fgene.2021.761264
Front Genet
2021 Dec 3;12:761264.
xylt2 exome sequencing (es) skeletal dysplasia spondyloocular syndrome (sos) xylosyltransferase ii
CC BY
https://pubmed.ncbi.nlm.nih.gov/34925453/
Case Reports
PMC8680350
34925453
Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype
2021