An association between bilateral keratoconus in a patient with spondyloocular syndrome and xylosyltransferase II gene mutation

Spondyloocular syndrome (SOS) is a rare autosomal-recessive disorder. Since 2015, SOS has been linked to mutations in xylosyltransferase II (XYLT2) locus. Phenotypic features could affect multiple systems, such as sight, hearing, or bones. Herein, we report a case of SOS with multiple bone fractures...

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Detalles Bibliográficos
Autores principales: Fathi-Nieto, Sara, Butrón-Ruiz, Rodrigo, García-Soler, Enrique, Hervás-Ontiveros, Ana, Ortiz-Seller, Amparo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9905907/
https://www.ncbi.nlm.nih.gov/pubmed/36760954
http://dx.doi.org/10.4103/ojo.ojo_201_21

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9905907/
https://www.ncbi.nlm.nih.gov/pubmed/36760954
http://dx.doi.org/10.4103/ojo.ojo_201_21

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