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A novel homozygous frameshift variant in XYLT2 causes spondyloocular syndrome in a consanguineous Pakistani family
Mehran Kausar, Elaine Guo Yan Chew, Hazrat Ullah, Mariam Anees, Chiea Chuen Khor, Jia Nee Foo, Outi Makitie*, Saima Siddiqi
*Corresponding author for this work
Research output: Contribution to journal › Article › peer-review
13
Citations
(Scopus)