Gabriella Doddato
Gabriella Doddato
1
Medical Genetics, University of Siena, Siena, Tuscany, Italy
2
Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Tuscany, Italy
1,2,†,
Alessandra Fabbiani
Alessandra Fabbiani
1
Medical Genetics, University of Siena, Siena, Tuscany, Italy
2
Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Tuscany, Italy
3
Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Tuscany, Italy
1,2,3,†,
Chiara Fallerini
Chiara Fallerini
1
Medical Genetics, University of Siena, Siena, Tuscany, Italy
2
Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Tuscany, Italy
1,2,
Mirella Bruttini
Mirella Bruttini
1
Medical Genetics, University of Siena, Siena, Tuscany, Italy
2
Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Tuscany, Italy
3
Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Tuscany, Italy
1,2,3,
Theodora Hadjistilianou
Theodora Hadjistilianou
4
Ophthalmological Science and Neuroscience, Azienda Ospedaliera Universitaria Senese, Siena, Tuscany, Italy
4,
Martino Landi
Martino Landi
5
Terapia Intensiva Neonatale, Azienda Ospedaliera Universitaria Senese, Siena, Tuscany, Italy
5,
Caterina Coradeschi
Caterina Coradeschi
5
Terapia Intensiva Neonatale, Azienda Ospedaliera Universitaria Senese, Siena, Tuscany, Italy
5,
Salvatore Grosso
Salvatore Grosso
6
Pediatria, Azienda Ospedaliera Universitaria Senese, Siena, Tuscany, Italy
6,
Barbara Tomasini
Barbara Tomasini
5
Terapia Intensiva Neonatale, Azienda Ospedaliera Universitaria Senese, Siena, Tuscany, Italy
5,
Maria Antonietta Mencarelli
Maria Antonietta Mencarelli
3
Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Tuscany, Italy
3,
Alessandra Renieri
Alessandra Renieri
1
Medical Genetics, University of Siena, Siena, Tuscany, Italy
2
Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Tuscany, Italy
3
Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Tuscany, Italy
1,2,3,
Francesca Ariani
Francesca Ariani
1
Medical Genetics, University of Siena, Siena, Tuscany, Italy
2
Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Tuscany, Italy
3
Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Tuscany, Italy
1,2,3,*
1
Medical Genetics, University of Siena, Siena, Tuscany, Italy
2
Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Tuscany, Italy
3
Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Tuscany, Italy
4
Ophthalmological Science and Neuroscience, Azienda Ospedaliera Universitaria Senese, Siena, Tuscany, Italy
5
Terapia Intensiva Neonatale, Azienda Ospedaliera Universitaria Senese, Siena, Tuscany, Italy
6
Pediatria, Azienda Ospedaliera Universitaria Senese, Siena, Tuscany, Italy
✉*Correspondence: Francesca Ariani, francesca.ariani@unisi.it
†
These authors have contributed equally to this work and share first authorship
This article was submitted to Genetics of Common and Rare Diseases, a section of the journal Frontiers in Genetics
Received 2023 Jan 13; Accepted 2023 Jan 16; Collection date 2023.
Keywords: spondyloocular syndrome (SOS), xylosyltransferase II, Exome Sequencing (ES), skeletal dysplasia, XYLT2
Copyright © 2023 Doddato, Fabbiani, Fallerini, Bruttini, Hadjistilianou, Landi, Coradeschi, Grosso, Tomasini, Mencarelli, Renieri and Ariani.
This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.