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...
Main Authors: | Sara Fathi-Nieto, Rodrigo Butrón-Ruiz, Enrique García-Soler, Ana Hervás-Ontiveros, Amparo Ortiz-Seller |
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Format: | Article |
Language: | English |
Published: |
Wolters Kluwer Medknow Publications
2022-01-01
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Series: | Oman Journal of Ophthalmology |
Subjects: | |
Online Access: | http://www.ojoonline.org/article.asp?issn=0974-620X;year=2022;volume=15;issue=3;spage=385;epage=388;aulast=Fathi-Nieto |
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