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Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype (vol 12, 761264, 2021)

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

FRONTIERS IN GENETICS（2023）

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spondyloocular syndrome (SOS),xylosyltransferase II,Exome Sequencing (ES),skeletal dysplasia,XYLT2
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