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

Spondyloocular syndrome (SOS) is a skeletal disorder caused by pathogenic variants in XYLT2 gene encoding a xylotransferase involved in the biosynthesis of proteoglycans. This condition, with autosomal recessive inheritance, has a high phenotypic variability. It is characterized by bone abnormalitie...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8680350/
https://www.ncbi.nlm.nih.gov/pubmed/34925453
http://dx.doi.org/10.3389/fgene.2021.761264

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8680350/
https://www.ncbi.nlm.nih.gov/pubmed/34925453
http://dx.doi.org/10.3389/fgene.2021.761264

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