Spondyloocular Syndrome: A Novel <i>XYLT2</i> Variant with Description of the Neonatal Phenotype.

Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype.

Doddato, Gabriella; Fabbiani, Alessandra; Fallerini, Chiara; Bruttini, Mirella; Hadjistilianou, Theodora; Landi, Martino; Coradeschi, Caterina; Grosso, Salvatore; Tomasini, Barbara; Mencarelli, Maria Antonietta; Renieri, Alessandra; Ariani, Francesca.

Afiliação

Doddato G; Medical Genetics, University of Siena, Siena, Italy.
Fabbiani A; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.
Fallerini C; Medical Genetics, University of Siena, Siena, Italy.
Bruttini M; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.
Hadjistilianou T; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Landi M; Medical Genetics, University of Siena, Siena, Italy.
Coradeschi C; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.
Grosso S; Medical Genetics, University of Siena, Siena, Italy.
Tomasini B; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.
Mencarelli MA; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Renieri A; Ophthalmological Science and Neuroscience, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Ariani F; Terapia Intensiva Neonatale, Azienda Ospedaliera Universitaria Senese, Siena, Italy.